FB2024_03 , released June 25, 2024
Allele: Dmel\dlg112
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General Information
Symbol
Dmel\dlg112
Species
D. melanogaster
Name
FlyBase ID
FBal0002681
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
dlgm30
Key Links
Genomic Maps

Allele class
Nature of the Allele
Allele class
Progenitor genotype
Cytology
Description

Missense mutation in the SH3 domain.

Point mutation, substitution of a highly conserved Leu to Pro in the SH3 domain, without altering the PDZ or GUK domains.

Nucleotide substitution: T1895C. Amino acid replacement: L632P. Mutation is in the SH3 domain.

Disrupts the SH3 domain.

Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Nucleotide change:

T11398481C

Reported nucleotide change:

T1895C

Amino acid change:

L640P | dlg1-PA; L652P | dlg1-PB; L632P | dlg1-PD; L632P | dlg1-PE; L632P | dlg1-PG; L593P | dlg1-PH; L593P | dlg1-PK; L601P | dlg1-PL; L890P | dlg1-PM; L632P | dlg1-PN; L640P | dlg1-PP; L632P | dlg1-PQ; L632P | dlg1-PR; L632P | dlg1-PS; L640P | dlg1-PT

Reported amino acid change:

L632P

Variant Molecular Consequences
Associated Sequence Data
DNA sequence
Protein sequence
 
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
Phenotype Manifest In
Detailed Description
Statement
Reference

Mutants develop large neoplastic tumours and die at the beginning of metamorphosis.

Homozygous larvae exhibit overgrown imaginal discs. Salivary gland cells show no obvious morphological or ultrastructural defects.

Lethality occurs during metamorphosis with neoplastic growth in imaginal discs and CNS. The morphology of the synaptic bouton structure is altered and the subsynaptic reticulum (SSR) is substantially less extensive and less complex than in wild type.

External Data
Interactions
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Phenotypic Class
Phenotype Manifest In
Additional Comments
Genetic Interactions
Statement
Reference
Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Comments

Scer\GAL432B mediated expression of dlg1Scer\UAS.cBa rescues lethality to adulthood.

Images (0)
Mutant
Wild-type
Stocks (1)
Notes on Origin
Discoverer

Voelker.

Comments
Comments

Class II mutation.

External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (6)
References (15)