FlyBase Allele Report: Dmel\stj[DD196]

General Information

Symbol

Dmel\stj^DD196

Species

D. melanogaster

Name

FlyBase ID

FBal0221280

Feature type

allele

Associated gene

Dmel\stj

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

Nature of the Allele

Allele class

Mutagen

Progenitor genotype

Cytology

Description

stj^DD196 contains a late stop codon and is predicted to lack the δ peptide.

(Kurshan et al., 2009)

Amino acid replacement: Q989term.

(Dickman et al., 2008)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:13,816,923..13,816,923 [+]

Nucleotide change:

C13816923T

Amino acid change:

Q989term | stj-PB; Q1042term | stj-PC; Q1008term | stj-PD

Reported amino acid change:

Q989term

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

(Dickman et al., 2008)

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 ( 0 )

Disease

Interaction

References

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy | embryonic stage

(Kurshan et al., 2009)

abnormal neuroanatomy | embryonic stage (with Df(2R)Exel7128)

(Kurshan et al., 2009)

abnormal neurophysiology | embryonic stage

(Kurshan et al., 2009)

abnormal neurophysiology | embryonic stage (with Df(2R)Exel7128)

(Kurshan et al., 2009)

abnormal neurophysiology | somatic clone

(Dickman et al., 2008)

lethal (with Df(2R)CX1)

(Dickman et al., 2008)

lethal (with stj^DD106)

(Dickman et al., 2008)

lethal (with stj^DD131)

(Dickman et al., 2008)

lethal (with stj^DD173)

(Dickman et al., 2008)

lethal (with stj^DD174)

(Dickman et al., 2008)

lethal (with stj^k10814)

(Dickman et al., 2008)

lethal | recessive

(Dickman et al., 2008)

lethal - all die during embryonic stage (with Df(2R)Exel7128)

(Dickman et al., 2008)

some die during embryonic stage (with Df(2R)Exel7128)

(Dickman et al., 2008)

Phenotype Manifest In

bouton

(Kurshan et al., 2009)

bouton (with Df(2R)Exel7128)

(Kurshan et al., 2009)

Detailed Description

Statement

Reference

Homozygous stj^DD196 and transheterozygous stj^DD196/Df(2R)Exel7128 mutants exhibit spontaneous miniature excitatory junction currents of wild-type amplitude, indicating that functional release sites are properly aligned with functional receptors, despite the absence of boutons.

stj^DD196 embryos have a small evoked response in high Ca[2+] saline (9% of wild-type).

stj^DD196 homozygous embryos exhibit a mild anatomical phenotype.

(Kurshan et al., 2009)

stj^DD196/stj^DD196, stj^DD196/Df(2R)CX1 or stj^DD196/Df(2R)Exel7128 animals die as well-formed, late stage embryos.

Adults with eyes that are homozygous for stj^DD196 (due to somatic clones induced using Scer\FLP1^Scer\UAS.cDa; Scer\GAL4^ey.PH) have severely abnormal electro-retinograms (ERGs) in response to light: on/off transients are lacking and the sustained components of the response are abnormally slow in their onset and recovery.

(Dickman et al., 2008)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

stj^DD196 has abnormal neuroanatomy | embryonic stage phenotype, suppressible by cac^20-3

(Kurshan et al., 2009)

Phenotype Manifest In