FlyBase Allele Report: Dmel\αSnap[M4]

General Information

Symbol

Dmel\αSnap^M4

Species

D. melanogaster

Name

FlyBase ID

FBal0102593

Feature type

allele

Associated gene

Dmel\αSnap

Associated Insertion(s)

Carried in Construct

Also Known As

SNAP^M4

Key Links

Genomic Maps

JBrowse

Allele class

hypomorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

hypomorphic allele - genetic evidence

(Babcock et al., 2004)

Mutagen

ethyl methanesulfonate

(Lukinova et al., 1999)

Progenitor genotype

Cytology

Description

A GCT to ACT alteration.

(Babcock et al., 2004)

Amino acid replacement: A59T.

(Babcock et al., 2004)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3L:20,314,690..20,314,690 [+]

Nucleotide change:

G20314690A

Reported nucleotide change:

G?A

Amino acid change:

A59T | alphaSnap-PA

Reported amino acid change:

A59T

(Babcock et al., 2004)

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

ameliorates Huntington's disease

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

(Kaltenbach et al., 2007)

modeled by Hsap\HTT^128Q.FL.UAS

(Romero et al., 2008)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal neurophysiology (with Df(3L)rdgC-co2)

(Babcock et al., 2004)

lethal | recessive

(Lukinova et al., 1999)

lethal - all die before end of second instar larval stage (with αSnap^G8)

(Coutinho-Budd et al., 2017)

partially lethal - majority die (with Df(3L)rdgC-co2)

(Babcock et al., 2004)

uncoordinated (with Df(3L)rdgC-co2)

(Babcock et al., 2004)

viable

(Babcock et al., 2004)

Phenotype Manifest In

Detailed Description

Statement

Reference

Snap^M4/Df(3L)rdgC-co2 adult escapers are uncoordinated, exhibit increasingly frequent seizures and typically die within 3 days of eclosion.

Electrophysiological studies of Snap^M4/Df(3L)rdgC-co2 third instar larvae show that the excitatory junctional potential (EJP) amplitude is not significantly different from that measured in wild-type control larvae. However, the average amplitude of miniature EJPs is significantly increased and the quantal content is reduced in Snap^M4/Df(3L)rdgC-co2 larvae. The neuromuscular junction morphology of these mutants is similar to that of control larvae.

(Babcock et al., 2004)

Hemizygotes show early lethality.

(Lukinova et al., 1999)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhancer of

Statement

Reference

alphaSnap[+]/αSnap^M4 is an enhancer of visible phenotype of Hsap\CHMP2B^Intron5.UAS, Scer\GAL4^GMR.PU

(Lu et al., 2013)

Suppressor of

Statement

Reference

Snap[+]/αSnap^M4 is a suppressor of abnormal neurophysiology phenotype of Hsap\HTT^128Q.FL.UAS, Scer\GAL4^elav-C155

(Romero et al., 2008)

αSnap^M4 is a suppressor of visible phenotype of Hsap\HTT^{128Q.1-336.UAS}, Scer\GAL4^GMR.PU

(Kaltenbach et al., 2007)

Phenotype Manifest In

Enhancer of

Statement

Reference

alphaSnap[+]/αSnap^M4 is an enhancer of eye phenotype of Hsap\CHMP2B^Intron5.UAS, Scer\GAL4^GMR.PU

(Lu et al., 2013)

Suppressor of

Statement

Reference

Snap[+]/αSnap^M4 is a suppressor of rhabdomere of eye photoreceptor cell | conditional | adult stage phenotype of Hsap\HTT^128Q.FL.UAS, Scer\GAL4^GMR.PF

(Romero et al., 2008)

αSnap^M4 is a suppressor of eye phenotype of Hsap\HTT^{128Q.1-336.UAS}, Scer\GAL4^GMR.PU

(Kaltenbach et al., 2007)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Snap^M4/+ fully suppresses the increased excitatory junction potential (EJP) amplitude and decreased failure rate seen in Hsap\HD^{128Q.FL.Scer\UAS}, Scer\GAL4^elav-C155 animals at 0.25 mM Ca[2+].

Snap^M4/+ suppresses the reduced number of rhabdomeres per ommatidium phenotype seen in Hsap\HD^{128Q.FL.Scer\UAS}, Scer\GAL4^GMR.PF animals at 20 days.

(Romero et al., 2008)

Complementation and Rescue Data

Fails to complement

αSnap^l65

(Babcock et al., 2004)

αSnap^G8

(Babcock et al., 2004)

αSnap^I1

(Babcock et al., 2004)

αSnap^M3

(Babcock et al., 2004)

αSnap^P2