Human Disease Model Report: alcohol, response to, EGFR-MAPK/ERK signaling

General Information

Name

alcohol, response to, EGFR-MAPK/ERK signaling

FlyBase ID

FBhh0000685

Disease Ontology Term

alcohol use disorder

Parent Disease

alcohol use disorder, susceptibility to (fly models overview)

OMIM

Overview

This report describes characterization of the fly alcohol response using Drosophila genes within the EGFR and MAPK/ERK signaling pathways. Multiple cell surface receptors have been shown to activate the MAPK/ERK signaling pathway (also called the RAS-RAF-MEK-ERK pathway), including EGFR. Mutations in fly genes Egfr, rl (orthologous to multiple human MAPK genes), spi (an EGFR ligand), rho (an activator of spi), and S (a regulator of cellular trafficking of EGFR ligands) all exhibit changes in ethanol sensitivity.

In a genetic screen for mutants with altered sensitivity to ethanol sedation, alleles of the Drosophila MAP4K mitogen-activated protein kinase hppy exhibited a decrease in ethanol sensitivity (resistance to ethanol-induced sedation); see FBhh0000684. Since MAPKs are known to act via the JNK, p38, and MAPK/ERK signaling pathways, additional mutations in Drosophila genes within these pathways were assessed for ethanol sensitivity. Only genes within the MAPK/ERK pathway and the upstream EGFR signaling pathway exhibited changes in sensitivity: activated or overexpressing mutations result in decreased sensitivity; loss-of-function alleles result in increased sensitivity. See also the human disease model report alcohol, response to, EPS8-related (FBhh0000688).

Administration of EGFR inhibitors [erlotinib (Tarceva) or gefitinib (Iressa)] to adult animals by feeding also results in increased ethanol sensitivity. Thus, in flies, inhibition of the EGFR pathway during adulthood is sufficient to produce enhanced ethanol sensitivity.

[updated Dec. 2018 by FlyBase; FBrf0222196]

Disease Summary Information

Parent Disease Summary: alcohol use disorder, susceptibility to (fly models overview)

Symptoms and phenotype

Alcoholism can be defined as persistence of excessive drinking over a long period of time despite adverse health effects and disruption of social relations (Morozova et al., 2014; pubmed:24395673).

(FlyBase Curators, 2013-)

The 2013 Diagnostic and Statistical Manual of Mental Disorders (DSM) combined the two former categorizations of abnormal alcohol use (alcohol abuse and alcohol dependence) into one diagnosis: alcohol use disorder. The severity of an individual's AUD is broken into classifications: mild, moderate, or severe. "Alcoholism" is a non-medical term often used to describe a severe form of alcohol use disorder. (https://www.therecoveryvillage.com/recovery-blog/alcoholism-alcohol-use-disorder-whats-difference/)

(FlyBase Curators, 2013-)

Excessive alcohol consumption is associated with increased risk of different types of cancer, higher cardiovascular disease mortality, birth defects, liver diseases, and neuropsychiatric disorders (Morozova et al., 2014; pubmed:24395673).

(FlyBase Curators, 2013-)

Alcoholism is a multifactorial, genetically influenced disorder. [from MIM:103780; 2017.12.19]

(OMIM, 2013-)

Specific Disease Summary: alcohol, response to, EGFR-MAPK/ERK signaling

OMIM report

Human gene(s) implicated

Symptoms and phenotype

Genetics

Cellular phenotype and pathology

Molecular information

Epidermal Growth Factor Receptor (EGFR) is a transmembrane receptor tyrosine kinase of the ErbB family. Binding of the protein to a ligand induces receptor dimerization and tyrosine autophosphorylation and leads to cell proliferation. Binding of EGFR can activate at least 4 major downstream signaling cascades including the RAS-RAF-MEK-ERK, PI3 kinase-AKT, PLCgamma-PKC and STATs modules. [from Gene Cards, EGFR; 2016.09.30]

(FlyBase Curators, 2013-)

External links

KEGG Disease Pathways: MAPK signaling pathway

Disease synonyms

alcohol, response to, EGFR/ERK signaling pathway

AUD susceptibility, EGFR/ERK signaling pathway

Search term: alcohol use disorder

Related Diseases

Related human health report(s)

alcohol, response to, MAP4K-related

alcohol, response to, PI3K-AKT signaling pathway

alcohol use disorder, susceptibility to (fly models overview)

Related Specific Diseases

OMIM phenotypic series

Disease

Associated Human gene(s)

Drosophila model

Human transgene in Drosophila

Ortholog Information

Human gene(s) in FlyBase

Other mammalian ortholog(s) used

D. melanogaster Gene Information (5)

Dmel\Egfr

Gene Snapshot

Epidermal growth factor receptor (Egfr) encodes the transmembrane tyrosine kinase receptor for signaling ligands (encoded by grk, spi, vn, and Krn) in the TGFα family, which utilises the intracellular MAP kinase pathway. The product of Egfr contributes to growth regulation, cell survival and developmental patterning. [Date last reviewed: 2019-06-06]

Molecular function (GO)

Cellular component (GO)

Gene Groups / Pathways

EGFR-C
RTK

Comments on ortholog(s)

Orthologs and Alignments from DRSC

DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans

H. sapiens (Human)

Dmel\rl

Gene Snapshot

rolled (rl) encodes the mitogen activated protein (MAP) kinase, core component of the RAS/MAPK pathway. It is inactivated by the phosphatases encoded by PTP-ER and Mkp3. It phosphorylates a diverse set of downstream cytoplasmic and nuclear effectors, which impact cell fate decisions in a wide array of tissues. [Date last reviewed: 2019-03-14]

Molecular function (GO)

Cellular component (GO)

Gene Groups / Pathways

Comments on ortholog(s)

Orthologs and Alignments from DRSC

DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans

H. sapiens (Human)

Dmel\spi

Gene Snapshot

spitz (spi) encodes the cardinal Egfr ligand that is produced as a transmembrane precursor and processed by the products of S and rho. Its roles include growth regulation, cell survival and developmental patterning. [Date last reviewed: 2019-03-14]

Molecular function (GO)

Cellular component (GO)

Gene Groups / Pathways

Comments on ortholog(s)

Orthologs and Alignments from DRSC

DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans

H. sapiens (Human)

Dmel\rho

Gene Snapshot

rhomboid (rho) encodes an intra-membrane serine protease that processes the membrane precursors of Egfr ligands. Its roles include growth regulation, cell survival and developmental patterning. [Date last reviewed: 2019-03-14]

Molecular function (GO)

serine-type endopeptidase activity

Cellular component (GO)

Gene Groups / Pathways

EGF-PRO
RHOM

Comments on ortholog(s)

Orthologs and Alignments from DRSC

DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans

H. sapiens (Human)

Dmel\S

Gene Snapshot

Star (S) encodes a type II transmembrane protein that facilitates trafficking of transmembrane Egfr ligands from the endoplasmic reticulum to the late secretory compartment. It is involved in growth regulation, cell survival and developmental patterning. [Date last reviewed: 2019-03-14]

Molecular function (GO)

Cellular component (GO)

Gene Groups / Pathways

EGF-PRO

Comments on ortholog(s)

Orthologs and Alignments from DRSC

DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans

H. sapiens (Human)

Other Genes Used: Viral, Bacterial, Synthetic (0)

Summary of Physical Interactions (77 groups)

Egfr

RNA-protein

Interacting group

Assay

References

Egfr - Fmr1

anti bait coimmunoprecipitation, quantitative reverse transcription pcr, clip-seq

(Buddika et al., 2021)

Egfr - pum

rna three hybrid

(Kim et al., 2012)

protein-protein

Interacting group

Assay

References

Egfr

anti tag coimmunoprecipitation, anti tag western blot, solid phase assay, tag visualisation by fluorescence

(Alvarado et al., 2010, Alvarado et al., 2004)

Egfr - Abi

anti bait coimmunoprecipitation, western blot

(Stephan et al., 2008)

Egfr - Abl

two hybrid

(Bianco et al., 2007)

Egfr - arm

anti bait coimmunoprecipitation, western blot

(Dumstrei et al., 2002)

Egfr - ATPsynβ

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Egfr - aux

anti bait coimmunoprecipitation, western blot, anti tag coimmunoprecipitation

(Zhao et al., 2022)

Egfr - Btk

two hybrid

(Bianco et al., 2007)

Egfr - Cbl

pull down, western blot, anti tag coimmunoprecipitation, anti tag western blot

(Kim et al., 2017, Hime et al., 1997, Meisner et al., 1997)

Egfr - CG10916

anti tag coimmunoprecipitation, anti tag western blot, peptide massfingerprinting

(Friedman et al., 2011, Friedman et al., 2011)

Egfr - Crk

two hybrid

(Bianco et al., 2007)

Egfr - dock

two hybrid

(Bianco et al., 2007)

Egfr - drk

anti bait coimmunoprecipitation, western blot, two hybrid, anti tag coimmunoprecipitation, peptide massfingerprinting, pull down

(Friedman et al., 2011, Wang and Pai, 2011, Bianco et al., 2007, MacDougall et al., 2004, Lai et al., 1995, Schweitzer et al., 1995)

Egfr - Egfrap

two hybrid

(Soler Beatty et al., 2021, Bianco et al., 2007)

Egfr - Fas2

anti bait coimmunoprecipitation, anti tag western blot, anti tag coimmunoprecipitation, western blot

(Velasquez et al., 2022)

Egfr - Graf

anti tag coimmunoprecipitation, western blot, pull down, anti tag western blot

(Kim et al., 2017)

Egfr - Hsp83

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Egfr - kek1

enzyme linked immunosorbent assay, anti tag coimmunoprecipitation, anti tag western blot, western blot

(Ozkan et al., 2013, Alvarado et al., 2004, Alvarado et al., 2004, Derheimer et al., 2004, Ghiglione et al., 2003)

Egfr - Lnk

two hybrid

(Bianco et al., 2007)

Egfr - Mbs

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Egfr - Mcad

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Egfr - Pi3K21B

two hybrid

(Bianco et al., 2007)

Egfr - porin

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Egfr - Ptp10D

anti tag coimmunoprecipitation, anti tag western blot

(Jeon and Zinn, 2009)

Egfr - Pyk

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Egfr - RFeSP

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Egfr - Sec10

anti tag coimmunoprecipitation, western blot, pull down, anti tag western blot

(Mao et al., 2019)

Egfr - Sec15

pull down, anti tag western blot, anti tag coimmunoprecipitation, western blot

(Mao et al., 2019)

Egfr - Shc

anti bait coimmunoprecipitation, western blot, pull down, anti tag coimmunoprecipitation, anti tag western blot, two hybrid

(Bianco et al., 2007, van der Geer et al., 1996, Lai et al., 1995)

Egfr - shg

anti bait coimmunoprecipitation, western blot

(Dumstrei et al., 2002)

Egfr - spi

surface plasmon resonance, solid phase assay, tag visualisation by fluorescence, x-ray crystallography

(Alvarado et al., 2010, Miura et al., 2006)

Egfr - sqd

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Egfr - Src42A

two hybrid

(Bianco et al., 2007)

Egfr - vap

anti tag coimmunoprecipitation, anti tag western blot, two hybrid

(Rowshanravan et al., 2014, Bianco et al., 2007)

Egfr - Vav

two hybrid, anti tag coimmunoprecipitation, peptide massfingerprinting, anti bait coimmunoprecipitation, western blot

(Fernández-Espartero et al., 2013, Friedman et al., 2011, Bianco et al., 2007, Sarkar et al., 2007)

protein-protein

Interacting group

Assay

References

rl - aop

enzymatic study, autoradiography, pull down

(Baker et al., 2001)

rl - Cdk2

anti tag coimmunoprecipitation, anti tag western blot, peptide massfingerprinting

(Friedman et al., 2011, Friedman et al., 2011)

rl - CG9391

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

rl - cic

two hybrid, anti tag coimmunoprecipitation, anti tag western blot, pull down, autoradiography, comigration in non denaturing gel electrophoresis, western blot, cross-linking study, Identification by mass spectrometry

(Paul et al., 2020, Futran et al., 2015, Astigarraga et al., 2007)

rl - corto

anti bait coimmunoprecipitation, western blot, anti tag coimmunoprecipitation, anti tag western blot, pull down, autoradiography

(Mouchel-Vielh et al., 2011)

rl - Dsor1

proximity ligation assay, fluorescence microscopy, anti tag coimmunoprecipitation, western blot

(Hall and Verheyen, 2015, Tipping et al., 2010)

rl - Gαq

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

rl - Gp93

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

rl - hid

two hybrid

(Hu et al., 2017.6.13)

rl - hng1

two hybrid

(Hu et al., 2017.6.13)

rl - Hsp60A

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

rl - Jra

enzymatic study, autoradiography

(Ciapponi et al., 2001)

rl - kay

enzymatic study, autoradiography

(Ciapponi et al., 2001)

rl - krz

anti tag coimmunoprecipitation, anti tag western blot, western blot

(Tipping et al., 2010)

rl - Lamtor3

anti tag coimmunoprecipitation, anti tag western blot, pull down, autoradiography

(Mouchel-Vielh et al., 2011, Mouchel-Vielh et al., 2008)

rl - Lk6

anti tag coimmunoprecipitation, anti tag western blot

(Parra-Palau et al., 2005)

rl - Lpin

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

rl - msk

anti bait coimmunoprecipitation, western blot

(Lorenzen et al., 2001)

rl - pnt

enzymatic study, autoradiography

(Qiao et al., 2006)

rl - poe

anti tag coimmunoprecipitation, anti tag western blot

(Xie et al., 2021)

rl - Ppm1

anti tag coimmunoprecipitation, anti tag western blot

(Friedman and Perrimon, 2006)

rl - Rack1

anti tag coimmunoprecipitation, anti tag western blot

(Xie et al., 2021)

rl - Raf

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

rl - Svil

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

rl - tay

pull down, autoradiography, anti tag coimmunoprecipitation, western blot

(Molnar and de Celis, 2013)

RNA-protein

Interacting group

Assay

References

rl - pum

rna three hybrid

(Kim et al., 2012)

spi

RNA-RNA

Interacting group

Assay

References

spi - mir-8

luminiscence technology, necessary binding region, fluorescence technology, quantitative reverse transcription pcr

(Morante et al., 2013)

spi - mir-bft

quantitative reverse transcription pcr

(Kim et al., 2017)

protein-protein

Interacting group

Assay

References

spi - aos

surface plasmon resonance

(Miura et al., 2006)

spi - Egfr

surface plasmon resonance, solid phase assay, tag visualisation by fluorescence, x-ray crystallography

(Alvarado et al., 2010, Miura et al., 2006)

spi - rasp

enzymatic study, autoradiography

(Hardy and Resh, 2012, Miura et al., 2006)

spi - rho

enzymatic study, western blot, inferred by author, anti tag western blot, autoradiography

(Strisovsky et al., 2009, Lemberg et al., 2005, Urban and Wolfe, 2005, Urban and Freeman, 2003, Urban et al., 2002, Urban et al., 2002, Lee et al., 2001, Urban et al., 2001)

spi - rho-4

enzymatic study, anti tag western blot, anti tag coimmunoprecipitation, inferred by author, peptide massfingerprinting

(Baker and Urban, 2015, Urban and Wolfe, 2005, Urban et al., 2002)

spi - ru

inferred by author, enzymatic study, anti tag western blot

(Urban and Freeman, 2003, Urban et al., 2002)

spi - S

anti tag coimmunoprecipitation, anti tag western blot, western blot

(Tsruya et al., 2002)

spi - stet

inferred by author, enzymatic study, anti tag western blot

(Urban and Freeman, 2003, Urban et al., 2002)

rho

protein-protein

Interacting group

Assay

References

rho - dia

pull down, autoradiography

(Großhans et al., 2005)

rho - grk

inferred by author, enzymatic study, anti tag western blot, autoradiography, western blot

(Strisovsky et al., 2009, Lemberg et al., 2005, Urban et al., 2002, Urban et al., 2002)

rho - Krn

inferred by author, enzymatic study, anti tag western blot

(Urban et al., 2002, Urban et al., 2002)

rho - Mbs

enzymatic study, autoradiography

(Mizuno et al., 2002)

rho - S

anti tag coimmunoprecipitation, anti tag western blot

(Tsruya et al., 2002)

rho - spi

enzymatic study, western blot, inferred by author, anti tag western blot, autoradiography

(Strisovsky et al., 2009, Lemberg et al., 2005, Urban and Wolfe, 2005, Urban and Freeman, 2003, Urban et al., 2002, Urban et al., 2002, Lee et al., 2001, Urban et al., 2001)

RNA-protein

Interacting group

Assay

References

rho - lark

pull down, quantitative reverse transcription pcr

(Swain et al., 2016)

protein-protein

Interacting group

Assay

References

S - rho

anti tag coimmunoprecipitation, anti tag western blot

(Tsruya et al., 2002)

S - spi

anti tag coimmunoprecipitation, anti tag western blot, western blot

(Tsruya et al., 2002)

Alleles Reported to Model Human Disease (Disease Ontology) (48 alleles)

Egfr

Models Based on Experimental Evidence ( 6 )

Allele

Disease

Evidence

References

Egfr^2.A887T.UAS

model of intestinal cancer

CEA

(Nászai et al., 2021)

model of cancer

CEA with scrib⁶⁷³

(Sheng and Du, 2020)

Egfr^UAS.cBa

model of carcinoma

CEA with Socs36E^GD8929

(Xu et al., 2022, Groth et al., 2020, Herranz et al., 2012)

CEA with mir-ban^C.UAS.EGFP

(Herranz et al., 2012)

CEA with Socs36E^EY11

(Herranz et al., 2012)

CEA

(Groth et al., 2020)

CEA with psq^KK111691

(Boukhatmi et al., 2020, Fereres et al., 2019)

model of cancer

CEA with psq^KK111691

(Herranz et al., 2014)

CEA with Aldh7A1^KK109006

(Andrejeva et al., 2018)

DOES NOT model carcinoma

CEA with Diap1^UAS.cUa

(Herranz et al., 2012)

model of alcohol use disorder

CEA

(Corl et al., 2009)

model of intestinal cancer

CEA

(Nászai et al., 2021)

Egfr^U.A887T.UAS

model of cardiomyopathy

CEA

(Yu et al., 2013)

Egfr^GD1654

model of alcohol use disorder

CEA

(Corl et al., 2009)

Egfr^KK100051

model of renal fibrosis

CEA with DopEcR^KK111211

(Zheng et al., 2020)

Egfr^Act.cUa.UAS

model of high grade glioma

CEA with Pi3K92E^CAAX.UAS

(Pryszlak et al., 2021)

Modifiers Based on Experimental Evidence ( 14 )

Allele

Disease

Interaction

References

Egfr^{FRT.RNAi.slbo}

ameliorates Parkinson's disease 1

modeled by Hsap\SNCA^UAS.cJa

(Rousseaux et al., 2018)

Egfr^2.A887T.UAS

model of intestinal cancer

is ameliorated by Rala^KK108989

(Nászai et al., 2021)

is exacerbated by Rala^UAS.cRa

(Nászai et al., 2021)

Egfr^2.UAS

exacerbates cancer

modeled by Ras85D^{G12V.UAS.Tag:FLAG,Tag:polyHis}

(Washington et al., 2020)

modeled by Ras85D^{Y4F.G12V.UAS.Tag:FLAG,Tag:polyHis}

(Washington et al., 2020)

Egfr^DN.UAS

ameliorates gastrointestinal system cancer

modeled by Apc2^g10, Apc^Q8

(Wang et al., 2013)

ameliorates colorectal cancer

modeled by Src64B^UAS.cCa

(Cordero et al., 2014)

ameliorates carcinoma

modeled by scrib¹

(Brumby and Richardson, 2003)

Egfr^UAS.cBa

ameliorates spinocerebellar ataxia type 13

modeled by Hsap\KCNC3^R423H.UAS

(Khare et al., 2017)

model of intestinal cancer

is ameliorated by Rala^KK108989

(Nászai et al., 2021)

is exacerbated by Rala^UAS.cRa

(Nászai et al., 2021)

is ameliorated by Ras85D^KK108029

(Nászai et al., 2021)

Egfr^f24

ameliorates X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance

modeled by Graf¹

(Kim et al., 2021)

Egfr^t1

ameliorates colorectal cancer

modeled by Src42A^CA.UAS

(Cordero et al., 2014)

Egfr^JF01368

ameliorates colorectal cancer

modeled by SH3PX1^HMJ21552

(Zhang et al., 2019)

ameliorates glioblastoma

modeled by Pi3K92E^CAAX.UAS, btl::Egfr^λ.UAS

(Chi et al., 2019)

Egfr^UAS.cUa

exacerbates Alzheimer's disease 1

modeled by Hsap\APP^{Aβ42.UAS.cUa}

(Cheng et al., 2021)

Egfr^GD1654

ameliorates prostate cancer

modeled by Ras85D^V12.UAS

(Rambur et al., 2020)

Egfr^KK100051

ameliorates colorectal cancer

modeled by Src42A^CA.UAS

(Cordero et al., 2014)

exacerbates alcohol use disorder

modeled by DopEcR^c02142

(Petruccelli et al., 2016)

Egfr^DN.cUa.UAS

DOES NOT ameliorate cancer

modeled by Hipk^UAS.Tag:HA

(Blaquiere et al., 2018)

Egfr^RNAi.UAS.cUa

ameliorates intestinal cancer

modeled by Src64B^UAS.cUa

(Kohlmaier et al., 2015)

modeled by Src42A^CA.UAS

(Kohlmaier et al., 2015)

Egfr^JF02283

ameliorates lung adenocarcinoma

modeled by Hsap\KIF5B::Hsap\RET^UAS.cDa

(Das and Cagan, 2017)

Models Based on Experimental Evidence ( 8 )

Allele

Disease

Evidence

References

rl¹

model of chromosome 16p11.2 deletion syndrome, 593-kb

CEA

(Park et al., 2017)

rl^RNAi.UAS.cUa

model of chromosome 16p11.2 deletion syndrome, 593-kb

CEA

(Park et al., 2017)

rl^KK115768

model of chromosome 16p11.2 deletion syndrome, 593-kb

CEA

(Yusuff et al., 2020, Iyer et al., 2018)

rl^{E335K.UAS.cTa}

DOES NOT model cancer

CEA

(Taylor et al., 2019)

rl^{D334N.UAS.cTa}

model of cancer

CEA

(Taylor et al., 2019)

rl^R80S.UAS

model of cancer

CEA with scrib¹

(Kushnir et al., 2020)

rl^{D334N.UAS.cKa}

model of cancer

CEA with scrib¹

(Kushnir et al., 2020)

rl^{R80S.D334N.UAS}

model of cancer

CEA with scrib¹

(Kushnir et al., 2020)

Modifiers Based on Experimental Evidence ( 10 )

Allele

Disease

Interaction

References

rl¹

ameliorates autosomal dominant cerebellar ataxia

modeled by Hsap\ATXN1^82Q.UAS

(Park et al., 2013)

ameliorates neurofibromatosis

modeled by Nf1^E2

(Walker et al., 2006)

ameliorates X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance

modeled by Graf¹

(Kim et al., 2021)

rl¹⁰

ameliorates X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance

modeled by Graf¹

(Kim et al., 2021)

rl^Sem

exacerbates carcinoma

modeled by Ras85D^V12.UAS

(Karim and Rubin, 1998)

rl^Sem.C.UAS

DOES NOT ameliorate neurodegenerative disease

modeled by Hsap\HTT^Q93.ex1.UAS

(Liévens et al., 2008)

rl^GD4697

ameliorates carcinoma

modeled by Ras85D^V12.UAS

(Murcia et al., 2019)

modeled by Ras85D^V12.UAS, scrib^KK101128

(Murcia et al., 2019)

rl^HMS00173

ameliorates prostate cancer

modeled by Ras85D^V12.UAS

(Rambur et al., 2020)

rl^GD12910

ameliorates Alzheimer's disease 1

modeled by Hsap\APP^{695.UAS.Tag:MYC}

(Huichalaf et al., 2019)

rl^RNAi.UAS.cUa

ameliorates cardiomyopathy

modeled by Hsap\RAF1^gof.UAS

(Yu et al., 2013)

rl^KK115768

model of chromosome 16p11.2 deletion syndrome, 593-kb

is ameliorated by COX6AL^KK101601

(Iyer et al., 2018)

is ameliorated by arm^KK102545

(Iyer et al., 2018)

exacerbates brain cancer

modeled by Ras85D^V12.cUa.UAS, scrib⁶⁷³

(Manzanero-Ortiz et al., 2021)

rl^UAS.Tag:FLAG

ameliorates neurodegenerative disease

modeled by Zzzz\CAG^{63Q.GMR.Tag:HA}

(Xie et al., 2021)

ameliorates Machado-Joseph disease

modeled by Hsap\ATXN3^{tr.Q78.UAS.Tag:HA}

(Xie et al., 2021)

spi

Models Based on Experimental Evidence ( 2 )

Allele

Disease

Evidence

References

spi^s.UAS

model of intestinal cancer

CEA

(Chen et al., 2016)

spi^sec.UASp

model of alcohol use disorder

CEA

(Corl et al., 2009)

Modifiers Based on Experimental Evidence ( 5 )

Allele

Disease

Interaction

References

spi^HMS01120

ameliorates prostate cancer

modeled by Ras85D^V12.UAS

(Rambur et al., 2020)

spi⁰¹⁰⁶⁸

ameliorates multiple endocrine neoplasia type 2B

modeled by Ret^MEN2B.GMR

(Read et al., 2005)

spi¹

ameliorates multiple endocrine neoplasia type 2B

modeled by Ret^MEN2B.GMR

(Read et al., 2005)

ameliorates multiple endocrine neoplasia type 2A

modeled by Ret^MEN2A.GMR

(Read et al., 2005)

spi^s3547

ameliorates multiple endocrine neoplasia type 2B

modeled by Ret^MEN2B.GMR

(Read et al., 2005)

ameliorates multiple endocrine neoplasia type 2A

modeled by Ret^MEN2A.GMR

(Read et al., 2005)

spi^GD1779

ameliorates intestinal cancer

modeled by Sox21a^JC1

(Chen et al., 2016)

rho

Models Based on Experimental Evidence ( 1 )

Allele

Disease

Evidence

References

rho^iks

model of alcohol use disorder

CEA

(Corl et al., 2009)

Modifiers Based on Experimental Evidence ( 5 )

Allele

Disease

Interaction

References

rho^EP3704

ameliorates amyotrophic lateral sclerosis type 8

modeled by Vap33^{P58S.UAS.Tag:FLAG}

(Sanhueza et al., 2015)

rho^UAS.cUa

ameliorates amyotrophic lateral sclerosis type 8

modeled by Vap33^{P58S.UAS.Tag:FLAG}

(Sanhueza et al., 2015)

rho^UAS.cdCa

exacerbates carcinoma

modeled by ft^k07918

(Garoia et al., 2005)

modeled by ft^G-rv

(Garoia et al., 2005)

rho^JF03106

ameliorates colorectal cancer

modeled by SH3PX1^JF02730

(Zhang et al., 2019)

modeled by SH3PX1^d1

(Zhang et al., 2019)

rho^HMS02264

ameliorates familial adenomatous polyposis 1

modeled by Apc2^g10, Apc^Q8

(Ngo et al., 2020)

Models Based on Experimental Evidence ( 1 )

Allele

Disease

Evidence

References

S^d01624

model of alcohol use disorder

CEA

(Corl et al., 2009)

Modifiers Based on Experimental Evidence ( 3 )

Allele

Disease

Interaction

References

S^IIN

ameliorates multiple endocrine neoplasia type 2B

modeled by Ret^MEN2B.GMR

(Read et al., 2005)

ameliorates multiple endocrine neoplasia type 2A

modeled by Ret^MEN2A.GMR

(Read et al., 2005)

S^k09530

ameliorates multiple endocrine neoplasia type 2B

modeled by Ret^MEN2B.GMR

(Read et al., 2005)

S^k09538a

ameliorates multiple endocrine neoplasia type 2B

modeled by Ret^MEN2B.GMR

(Read et al., 2005)

ameliorates multiple endocrine neoplasia type 2A

modeled by Ret^MEN2A.GMR

(Read et al., 2005)

Alleles Representing Disease-Implicated Variants

Genetic Tools, Stocks and Reagents

Sources of Stocks

Contact lab of origin for a reagent not available from a public stock center.

Bloomington Stock Center Disease Page

Related mammalian, viral, bacterial, or synthetic transgenes

Allele

Transgene

Publicly Available Stocks

Selected Drosophila transgenes

Allele

Transgene

Publicly Available Stocks

y¹ w^*; P{UAS-Egfr.B}32-26-1

Egfr^2.UAS

P{Egfr.2.UAS}

w^*; P{Egfr.2.UAS}7-10

Egfr^2.A887T.UAS

P{Egfr.2.A887T.UAS}

w^*; P{Egfr.2.A887T.UAS}8-2

w^*; P{UAS-ve.dC}2; D^r72/TM6B, P{iab-2(1.7)lacZ}6B, Tb⁺

w^*; P{UASp-spi.sec}3/TM3, Ser¹

RNAi constructs available

Allele

Transgene

Publicly Available Stocks

Egfr^{RNAi.13xlexAop.cZa}

P{13xlexAop-Egfr.RNAi.Z}

Egfr^GD1654

P{GD1654}

w¹¹¹⁸; P{GD1654}v43267

Egfr^JF01368

P{TRiP.JF01368}

y¹ v¹; P{TRiP.JF01368}attP2

y¹ v¹; P{TRiP.JF01083}attP2

Egfr^JF01084

P{TRiP.JF01084}

y¹ v¹; P{TRiP.JF01084}attP2

Egfr^JF01696

P{TRiP.JF01696}

y¹ v¹; P{TRiP.JF01696}attP2

y¹ v¹; P{TRiP.JF02283}attP2

Egfr^JF02384

P{TRiP.JF02384}

y¹ v¹; P{TRiP.JF02384}attP2

Egfr^{FRT.RNAi.slbo}

M{slbo(FRT.lacZ)Egfr.RNAi}

w¹¹¹⁸; M{slbo(FRT.lacZ)Egfr.RNAi}ZH-51D

Egfr^RNAi.slbo

M{slbo(-FRT)Egfr.RNAi}

y¹ v¹; P{TRiP.HMS05003}attP40

w¹¹¹⁸; P{GD2243}v51952/TM3

y¹ v¹; P{TRiP.JF03106}attP2

y¹ sc^* v¹ sev²¹; P{TRiP.GL00692}attP2/TM3, Sb¹

rho^HMS02264

P{TRiP.HMS02264}

y¹ v¹; P{TRiP.HMS02264}attP40

y¹ sc^* v¹ sev²¹; P{TRiP.HMS05418}attP40

w¹¹¹⁸; P{GD1779}v3920

y¹ v¹; P{TRiP.JF03322}attP2

y¹ sc^* v¹ sev²¹; P{TRiP.HMS01120}attP2

w¹¹¹⁸; P{GD4697}v43123

rl^JF01080

P{TRiP.JF01080}

y¹ v¹; P{TRiP.JF01080}attP2

rl^JF01366

P{TRiP.JF01366}

y¹ v¹; P{TRiP.JF01366}attP2

y¹ sc^* v¹ sev²¹; P{TRiP.GL00215}attP2

rl^HMS00173

P{TRiP.HMS00173}

y¹ sc^* v¹ sev²¹; P{TRiP.HMS00173}attP2

rl^GD12910

P{GD12910}

w¹¹¹⁸; P{GD12910}v35641

rl^RNAi.UAS.cUa

P{UAS-rl.RNAi.U}

Selected Drosophila classical alleles

Allele

Allele class

Mutagen

Publicly Available Stocks

Egfr^top-EB

loss of function allele

ethyl methanesulfonate

Egfr^f24

loss of function allele

ethyl methanesulfonate

w^*; smo^D16 P{neoFRT}42D mam¹⁰ Egfr^f24/CyO, P{ActGFP}JMR1

Egfr^f36

amorphic allele - genetic evidence

gamma ray

Egfr^top-101

amorphic allele - genetic evidence

ethyl methanesulfonate

Egfr^top-EE42

amorphic allele - genetic evidence

ethyl methanesulfonate

Egfr^top-EC20

loss of function allele

ethyl methanesulfonate

Egfr^f3

loss of function allele

ethyl methanesulfonate

cn¹ Egfr^f3 bw¹ speck¹/CyO

Egfr^f6

amorphic allele - genetic evidence

ethyl methanesulfonate

Egfr^f9

amorphic allele - genetic evidence

ethyl methanesulfonate

Egfr^f11

amorphic allele - genetic evidence

ethyl methanesulfonate

Egfr^top-EA

loss of function allele

ethyl methanesulfonate

Egfr^top-CA

loss of function allele

ethyl methanesulfonate

Egfr^top-38

amorphic allele - genetic evidence

ethyl methanesulfonate

Egfr^f8

amorphic allele - genetic evidence

ethyl methanesulfonate

Egfr^JE1

amorphic allele - genetic evidence

ethyl methanesulfonate

Egfr^f38

amorphic allele - genetic evidence

gamma ray

Egfr^JE13

amorphic allele - genetic evidence

ethyl methanesulfonate

Egfr^f12

amorphic allele - genetic evidence

ethyl methanesulfonate

Egfr^f10

amorphic allele - genetic evidence

ethyl methanesulfonate

Egfr^f5

amorphic allele - genetic evidence

ethyl methanesulfonate

cn¹ Egfr^f5 bw¹ speck¹/CyO

Egfr^top-18A

amorphic allele - genetic evidence

Egfr^f37

amorphic allele - genetic evidence

gamma ray

Egfr^t1

ethyl methanesulfonate

Egfr^t1 bw¹/CyO

Egfr^f2

amorphic allele - genetic evidence

ethyl methanesulfonate

cn¹ Egfr^f2 bw¹ speck¹/CyO

rho⁵

loss of function allele

P-element activity

rho⁶

loss of function allele

Delta2-3 transposase

rho^EP3704

P-element activity

w^*; P{EP}rho^EP3704 / TM6B, Tb¹

rho^iks

P-element activity

rho^PΔ5

loss of function allele

Delta2-3 transposase

rho^ve-1

loss of function allele

spontaneous

Df(3L)R-G5, rho^ve-1 / TM6

rho^7M43

amorphic allele - genetic evidence

ethyl methanesulfonate

ru¹ rho^7M43 hry¹ Diap1^th-1 st¹ cu¹ sr¹ e^s ca¹/TM3, Sb¹

rho^PΔ38

amorphic allele - genetic evidence

Delta2-3 transposase

S^k09530

P-element activity

y^d2 w¹¹¹⁸ P{ey-FLP.N}2 P{5xglBS-lacZ.38-1}TPN1; P{lacW}S^k09530 P{neoFRT}40A/CyO y⁺

S^k09538a

P-element activity

w^67c23 ; P{lacW}S^k09538a / CyO

S^d01624

P-element activity

S^IIN

amorphic allele - genetic evidence

ethyl methanesulfonate

S^IIN cn¹ bw¹ speck¹/CyO

spi^SCP2

loss of function allele

P-element activity

spi^SCP1

loss of function allele

P-element activity

spi⁰¹⁰⁶⁸

P-element activity

spi^s3547

P-element activity

y^d2 w¹¹¹⁸ P{ey-FLP.N}2; P{lacW}spi^s3547 P{neoFRT}40A/CyO y⁺

spi²

loss of function allele

ethyl methanesulfonate

spi² cn¹ bw¹ speck¹/CyO

spi¹

loss of function allele

ethyl methanesulfonate

spi¹ cn¹ bw¹ speck¹/CyO

spi^SC1

amorphic allele - genetic evidence

ethyl methanesulfonate

spi^SC2

amorphic allele - genetic evidence

ethyl methanesulfonate

spi^SC3

amorphic allele - genetic evidence

ethyl methanesulfonate

rl^2M1

amorphic allele - genetic evidence

ethyl methanesulfonate

rl^ES7

loss of function allele

rl⁹

amorphic allele - genetic evidence

ethyl methanesulfonate

rl^la8

amorphic allele - genetic evidence

ethyl methanesulfonate

rl^Sem

ethyl methanesulfonate

rl^Sem/CyO/Dp(?;2)bw^D, S¹ wg^Sp-1 Ms(2)M¹ bw^D

rl^x-3-30

loss of function allele

rl¹

loss of function allele

spontaneous

rl¹

rl^4H6

amorphic allele - genetic evidence

ethyl methanesulfonate

rl^2L1

amorphic allele - genetic evidence

ethyl methanesulfonate

rl^R29

amorphic allele - genetic evidence

X ray

rl¹⁰

ethyl methanesulfonate

rl^R26

amorphic allele - genetic evidence

X ray

rl^E-80

loss of function allele

ethyl methanesulfonate

References (10)

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