FlyBase Allele Report: Dmel\Chc[1]

General Information

Symbol

Dmel\Chc¹

Species

D. melanogaster

Name

FlyBase ID

FBal0033511

Feature type

allele

Associated gene

Dmel\Chc

Associated Insertion(s)

Carried in Construct

Key Links

Allele class

loss of function allele

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

loss of function allele

(Bazinet, 1997.10.3)

Mutagen

ethyl methanesulfonate

(Katzen and Bishop, 1996, Bazinet et al., 1993, Katzen, 1990)

Progenitor genotype

Cytology

Description

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

Variant Molecular Consequences

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

Expression Data

Reporter Expression

Additional Information

Statement

Reference

Marker for

Reflects expression of

Reporter construct used in assay

Human Disease Associations

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 0 )

Disease

Evidence

References

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

exacerbates tauopathy

modeled by Hsap\MAPT^R406W.UAS

(Merlo et al., 2014)

ameliorates Huntington's disease

modeled by Hsap\HTT^{128Q.1-336.UAS}

(Kaltenbach et al., 2007)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

embryonic/larval tracheal dorsal trunk

(Tiklová et al., 2010)

presumptive embryonic/larval tracheal system

(Behr et al., 2007)

Detailed Description

Statement

Reference

Chc¹ embryos demonstrate over-elongated dorsal trunks.

The paracellular barrier integrity of Chc¹ embryos is compromised, as injected dye leaks into the trachea in 36% of analysed mutants.

(Tiklová et al., 2010)

The neuromuscular junctions of Chc⁴/Chc¹ third instar larvae show similar levels of membrane uptake (dye internalisation) to controls in response to nerve stimulation. However, unlike in controls, the dye is often concentrated in subsynaptic structures, rather than the typical donut shape seen in controls. The size of the boutons is similar to wild type and no additional satellite boutons are seen.

Flies expressing Chc^{N.4C.T:Zzzz\FLAG,T:Zzzz\TC} in a Chc¹ mutant background are viable. They display no behavioural defects, the morphology of the third instar larval neuromuscular junctions is indistinguishable from controls, postsynaptic receptors are clustered normally and neurotransmitter release in response to low and high frequency nerve stimulation is similar to controls. These phenotypes are seen both in the presence and absence of Chc photoinactivation by FlAsH-FALI.

When flies expressing Chc^{N.4C.T:Zzzz\FLAG,T:Zzzz\TC} in a Chc¹ mutant background are pretreated with FlAsH-FALI to photoinactivate Chc, they show similar amounts of membrane uptake (dye internalisation) to controls in response to nerve stimulation. However, unlike in controls, the dye is often concentrated in subsynaptic structures, rather than the typical donut shape. A similar phenotype is seen when flies are treated with chlorpromazine, but the phenotype is not enhanced by combining treatment with FlAsH-FALI and chlorpromazine together. When flies are stimulated for a second time in the absence of dye, the previously internalised dye is not unloaded, indicating that membrane internalised in the absence of Chc is not released.

The synaptic boutons of third instar larvae expressing Chc^{N.4C.T:Zzzz\FLAG,T:Zzzz\TC} in a Chc¹ mutant background and subjected to FlAsH-FALI to photoinactivate Chc are almost devoid of synaptic vesicles and show giant membrane invaginations, with some measuring >1μM in cross section. There is a decrease in vesicle number per area and an increase in vesicle size. The remaining round or oval shaped vesicles in these boutons show heterogeneity in size and a population of larger vesicles and cisternae is observed. However, active zones mitochondria and subsynaptic reticulum are all present in both control and FlAsH-treated synapses.

FlAsH-FALI treatment has no effect on the excitatory junction potential (EJP) amplitude seen in flies expressing Chc^{N.4C.T:Zzzz\FLAG,T:Zzzz\TC} in a Chc¹ mutant background during low frequency stimulation. The same result is seen at all Ca[2+] concentrations tested. However, when EJPs are recorded during intense stimulation, FlAsH-FALI photoinactivation reduces the relative EJP amplitude compared to controls, with the amplitude dropping to <25% of the initial value.

(Kasprowicz et al., 2008)

Flies expressing Chc^{4C.T:Zzzz\FLAG,T:Zzzz\TC} in a Chc¹ mutant background are viable and don't show any obvious developmental defects. No defects are seen in climbing, negative geotaxis or flying. Under normal conditions electroretinogram recordings in response to a light flash are comparable to wild type. However when FlAsH is micro-injected under the photoreceptor layer these flies lack the normal "on" and "off" transients seen in controls.

(Venken et al., 2008)

Mutant embryos show an extension of tracheal tube length compared to controls, show a failure of luminal chitin extracellular matrix organisation, and show a loss of lumen clearance which results in a failure of gas filling.

(Behr et al., 2007)

No defects are seen in axon pruning during metamorphosis, or defects seen in the mushroom body.

(Watts et al., 2003)

Strong loss of function allele.

(Bazinet, 1997.10.3)

Germline clonal analysis demonstrates an autonomous cell-lethal mutation in the female germline. Most embryos succeed in hatching, unhatched embryos show no regular cuticle defect.

(Bazinet et al., 1993)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhancer of

Statement

Reference

Chc¹ is an enhancer of increased cell death phenotype of Hsap\MAPT^R406W.UAS, Scer\GAL4^elav.PLu

(Merlo et al., 2014)

Chc¹ is an enhancer of abnormal mitotic cell cycle phenotype of Hsap\MAPT^R406W.UAS, Scer\GAL4^elav.PLu

(Merlo et al., 2014)

Chc[+]/Chc¹ is an enhancer of abnormal neuroanatomy | larval stage phenotype of Nak^RNAi.UAS, Scer\GAL4^109(2)80

(Yang et al., 2011)

Chc[+]/Chc¹ is an enhancer of visible phenotype of lqf^{glrs.Tag:FLAG}

(Eun et al., 2007)

Chc[+]/Chc¹ is an enhancer of visible phenotype of faf^FO8/faf^BX3

(Cadavid et al., 2000)

Chc[+]/Chc¹ is an enhancer of visible | recessive phenotype of faf^BX3, lqf^bE25

(Cadavid et al., 2000)

Chc[+]/Chc¹ is an enhancer of visible phenotype of faf^BX3, lqf^bE25

(Cadavid et al., 2000)

Suppressor of

Statement

Reference

Chc¹ is a suppressor of visible phenotype of Hsap\HTT^{128Q.1-336.UAS}, Scer\GAL4^GMR.PU

(Kaltenbach et al., 2007)

Other

Statement

Reference

Chc¹, aux^K47/aux^D128 has lethal | dominant phenotype

(Eun et al., 2008)

Chc[+]/Chc¹, lqf^FDD9 has lethal phenotype

(Cadavid et al., 2000)

Chc¹, lqf^FDD9 has lethal phenotype

(Cadavid et al., 2000)

Chc¹, put[+]/put¹⁰⁴⁶⁰ has visible | dominant | heat sensitive phenotype

(Gonzalez-Gaitan and Jackle, 1999)

Chc¹, tkv⁸/tkv[+] has visible | dominant phenotype

(Gonzalez-Gaitan and Jackle, 1999)

Chc[+]/Chc¹, put¹⁰⁴⁶⁰ has visible | dominant | heat sensitive phenotype

(Gonzalez-Gaitan and Jackle, 1999)

Chc[+]/Chc¹, tkv⁸ has visible | dominant | heat sensitive phenotype

(Gonzalez-Gaitan and Jackle, 1999)

AP-2α³, Chc[+]/Chc¹ has visible | dominant | heat sensitive phenotype

(Gonzalez-Gaitan and Jackle, 1999)

AP-2α³/alpha-Adaptin[+], Chc¹ has visible | dominant | heat sensitive phenotype

(Gonzalez-Gaitan and Jackle, 1999)

Phenotype Manifest In

NOT Enhanced by

Statement

Reference

Chc¹ has | heat sensitive phenotype, non-enhanceable by Mad^B1

(Gonzalez-Gaitan and Jackle, 1999)

Chc¹ has | heat sensitive phenotype, non-enhanceable by dpp^BC86

(Gonzalez-Gaitan and Jackle, 1999)

Enhancer of

Statement

Reference

Chc[+]/Chc¹ is an enhancer of dendritic arborizing neuron | larval stage phenotype of Nak^RNAi.UAS, Scer\GAL4^109(2)80

(Yang et al., 2011)

Chc[+]/Chc¹ is an enhancer of dendrite | larval stage phenotype of Nak^RNAi.UAS, Scer\GAL4^109(2)80

(Yang et al., 2011)

Chc[+]/Chc¹ is an enhancer of eye phenotype of lqf^{glrs.Tag:FLAG}

(Eun et al., 2007)

Chc[+]/Chc¹ is an enhancer of eye phenotype of faf^FO8/faf^BX3

(Cadavid et al., 2000)

Chc[+]/Chc¹ is an enhancer of wing phenotype of faf^BX3, lqf^bE25

(Cadavid et al., 2000)

Chc[+]/Chc¹ is an enhancer of eye phenotype of faf^BX3, lqf^bE25

(Cadavid et al., 2000)

Suppressor of

Statement

Reference

Chc¹ is a suppressor of eye phenotype of Hsap\HTT^{128Q.1-336.UAS}, Scer\GAL4^GMR.PU

(Kaltenbach et al., 2007)

Other

Statement

Reference

Chc[+]/Chc¹, lqf^FDD9 has tarsal segment phenotype

(Cadavid et al., 2000)

Chc[+]/Chc¹, lqf^FDD9 has wing phenotype

(Cadavid et al., 2000)

Chc[+]/Chc¹, lqf^FDD9 has eye phenotype

(Cadavid et al., 2000)

AP-2α³, Chc[+]/Chc¹ has wing phenotype

(Gonzalez-Gaitan and Jackle, 1999)

AP-2α³, Chc[+]/Chc¹ has wing vein phenotype

(Gonzalez-Gaitan and Jackle, 1999)

Chc¹, put[+]/put¹⁰⁴⁶⁰ has wing vein phenotype

(Gonzalez-Gaitan and Jackle, 1999)

Chc¹, tkv⁸/tkv[+] has wing phenotype

(Gonzalez-Gaitan and Jackle, 1999)

Chc¹, tkv⁸/tkv[+] has wing vein phenotype

(Gonzalez-Gaitan and Jackle, 1999)

AP-2α³, Chc[+]/Chc¹ has posterior crossvein phenotype

(Gonzalez-Gaitan and Jackle, 1999)

Chc[+]/Chc¹, put¹⁰⁴⁶⁰ has wing phenotype

(Gonzalez-Gaitan and Jackle, 1999)

Chc[+]/Chc¹, put¹⁰⁴⁶⁰ has wing vein phenotype

(Gonzalez-Gaitan and Jackle, 1999)

Chc[+]/Chc¹, tkv⁸ has wing phenotype

(Gonzalez-Gaitan and Jackle, 1999)

Chc[+]/Chc¹, tkv⁸ has wing vein phenotype

(Gonzalez-Gaitan and Jackle, 1999)

AP-2α³/alpha-Adaptin[+], Chc¹ has wing phenotype

(Gonzalez-Gaitan and Jackle, 1999)

AP-2α³/alpha-Adaptin[+], Chc¹ has wing vein phenotype

(Gonzalez-Gaitan and Jackle, 1999)

AP-2α³/alpha-Adaptin[+], Chc¹ has posterior crossvein phenotype

(Gonzalez-Gaitan and Jackle, 1999)

Chc¹, put[+]/put¹⁰⁴⁶⁰ has wing phenotype

(Gonzalez-Gaitan and Jackle, 1999)

Additional Comments

Genetic Interactions

Statement

Reference

Chc¹/+ enhances the reduction in the number of dendritic endpoints of dorsal dendritic arborisation neurons which is seen in larvae expressing Nak^{dsRNA.Scer\UAS} under the control of Scer\GAL4^109(2)80. In addition, clusters of shortened terminals are more often seen.

(Yang et al., 2011)

Chc¹/+ ; aux^D128/aux^K47 adults cannot be recovered.

(Eun et al., 2008)

The Chc¹/+ ; lqf^FDD9/lqf^FDD9 combination is lethal. Rare escapers have severely malformed eyes and tarsal fusions and the wing phenotype is enhanced compared to lqf^FDD9 homozygotes. The faf^BX3/faf^FO8 phenotype is dominantly enhanced by Chc¹. The lqf^bE25 faf^BX3/faf^BX3 mutant phenotype is dominantly enhanced by Chc¹.

(Cadavid et al., 2000)

Double heterozygotes of α-Adaptin³/+ with Chc¹/+ have a reduced wing with vein defects at 25^oC and the wing remnant phenotype at 29^oC. Double heterozygotes of α-Adaptin³/+ with Chc¹/+ at 18^oC show a thickened posterior crossvein phenotype, reminiscent of the tkv mutant phenotype. At 18^oC and 25^oC, Chc¹/+, put¹⁰⁴⁶⁰/+ double heterozygotes have normal wings, while at 29^oC they show a wing reduction and wing vein truncation phenotype, indicative of a problem with A/P pattern formation. At 25^oC, Chc¹/+, tkv⁸/+ double heterozygotes show thickened veins and wing reduction phenotypes.

(Gonzalez-Gaitan and Jackle, 1999)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Fails to complement

Chc^GF23

(Yan et al., 2009)

Rescued by

Chc¹ is rescued by Chc^Tag:HA

(Kasprowicz et al., 2014)

Chc⁴/Chc¹ is rescued by Chc^{N.4C.Tag:FLAG,Tag:CALI(TC)}

(Vazquez-Pianzola et al., 2014)

Chc⁴/Chc¹ is rescued by Scer\GAL4^Act.PU/Chc^UASp.EGFP

(Vazquez-Pianzola et al., 2014)

Chc⁴/Chc¹ is rescued by Scer\GAL4^Act.PU/Chc^UASp.Tag:V5

(Vazquez-Pianzola et al., 2014)

Chc⁴/Chc¹ is rescued by Scer\GAL4^Act.PU/Chc^UASp.Tag:MYC

(Vazquez-Pianzola et al., 2014)

Chc¹ is rescued by Chc^{tCH322-123J21}

(Venken et al., 2009)

Chc¹ is rescued by Chc^+t13

(Bazinet et al., 1993)

Not rescued by

Chc¹ is not rescued by Scer\GAL4^Act.PU/Chc^UASp.EGFP

(Vazquez-Pianzola et al., 2014)

Chc¹ is not rescued by Scer\GAL4^Act.PU/Chc^UASp.Tag:V5

(Vazquez-Pianzola et al., 2014)

Chc¹ is not rescued by Scer\GAL4^Act.PU/Chc^UASp.Tag:MYC

(Vazquez-Pianzola et al., 2014)

Chc¹ is not rescued by Chc^{C.4C.Tag:FLAG,Tag:CALI(TC)}

(Kasprowicz et al., 2008)

Chc¹ is not rescued by Chc^CHC2

(Bazinet et al., 1993)

Chc¹ is not rescued by Chc^CHC9

(Bazinet et al., 1993)

Comments

Chc^T:Ivir\HA1 rescues the lethality of Chc¹.

(Kasprowicz et al., 2014)

Two copies of Chc^{N.4C.T:Zzzz\FLAG,T:Zzzz\TC} rescues the lethality of Chc¹ mutants.

One copy of Chc^{N.4C.T:Zzzz\FLAG,T:Zzzz\TC} rescues the sterility, poor viability and locomotive defects of Chc¹/Chc⁴ mutants.

Expression of either Chc^{Scer\UAS.P\T.T:Avic\GFP-EGFP}, Chc^{Scer\UAS.P\T.T:SV5\V5} and Chc^{Scer\UAS.P\T.T:Hsap\MYC} under the control of Scer\GAL4^Act.PU rescues the reduced viability and sterility of Chc¹/Chc⁴ females, but does not rescue the lethality of Chc¹ mutants.

(Vazquez-Pianzola et al., 2014)

Expression of Chc^{N.4C.T:Zzzz\FLAG,T:Zzzz\TC} rescues the lethality seen in homozygous Chc¹ mutants.

Expression of Chc^{C.4C.T:Zzzz\FLAG,T:Zzzz\TC} does not rescue the lethality seen in homozygous Chc¹ mutants.

(Kasprowicz et al., 2008)

Expression of Chc^{4C.T:Zzzz\FLAG,T:Zzzz\TC} rescues the lethality associated with Chc¹.

(Venken et al., 2008)

Images (0)

Mutant

Wild-type

Stocks (2)

Bloomington

4166

w^* Chc¹/FM7c, sn⁺/Dp(1;Y)shi⁺1, y⁺ Bar^S

Kyoto

107608

w^* Chc¹/FM7c/Dp(1;Y)shi⁺1, y⁺ Bar^S

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (5)

Reported As

Symbol Synonym

Chc¹

(Pinheiro et al., 2023, Vazquez-Pianzola et al., 2022, Kasprowicz et al., 2014, Merlo et al., 2014, Vazquez-Pianzola et al., 2014, Yang et al., 2011, Christensen et al., 2009.2.28, Yan et al., 2009, Eun et al., 2008)

D-Chc¹

(Gonzalez-Gaitan and Jackle, 1999)

EM13

chc¹

(Matta et al., 2012, Tiklova et al., 2010, Tiklová et al., 2010, Venken et al., 2009, Kasprowicz et al., 2008, Venken et al., 2008, Behr et al., 2007, Eun et al., 2007, Dubois et al., 2001, Cadavid et al., 2000)

em13

(Katzen and Bishop, 1996)

Name Synonyms

Secondary FlyBase IDs

FBal0039456

References (26)

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