FB2024_03 , released June 25, 2024
Allele: Dmel\pdm2E46
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General Information
Symbol
Dmel\pdm2E46
Species
D. melanogaster
Name
FlyBase ID
FBal0046250
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Nature of the Allele
Progenitor genotype
Cytology
Description

Amino acid replacement: Q185term.

The mutation is predicted to produce a truncated protein that lacks the POU (DNA binding) domain.

Nucleotide substitution: C?T.

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

C12684881T

Reported nucleotide change:

C?T

Amino acid change:

Q185term | pdm2-PA; Q580term | pdm2-PB; Q580term | pdm2-PC; Q580term | pdm2-PD

Reported amino acid change:

Q185term

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

Lethal when heterozygous with Df(2L)prd1.7 and viable when heterozygous with Df(2L)Prl. Homozygotes exhibit defects in the formation of the RP2 motoneuron. Number of hemisegments with a mature RP2 neuron in homozygous embryos is reduced to 76%, loss of RP2 phenotype. The failure to produce mature RP2 neurons is attributable, at least in part, to GMC4-2a adopting an aberrant cell identity. Heterozygotes with Df(2L)pdm-2PR6 have only 80% of hemisegments with a mature RP2 neuron. P{HSpdm-1} can restore at least some of the mature RP2 motoneurons in pdm2E46/Df(2L)prd1.7 embryos, in which mature motoneurons are not made.

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
Images (0)
Mutant
Wild-type
Stocks (1)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (2)
Reported As
Symbol Synonym
Name Synonyms
Secondary FlyBase IDs
    References (3)