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General Information
Symbol
Dmel\cav2248
Species
D. melanogaster
Name
FlyBase ID
FBal0263522
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Nature of the Allele
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
point mutation
Nucleotide change:

G24222459A

Reported nucleotide change:

?111?

Amino acid change:

W45term | cav-PA; W37term | cav-PB; W37term | cav-PD; W43term | cav-PE

Comment:

Nucleotide substitution leading to a nonsense mutation reported at base 11 of the cav-PB coding sequence.

Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Cytology
Nature of the lesion
Statement
Reference

Amino acid replacement: ??term.

Nucleotide substitution: ?111?.

The nonsense mutation is at nucleotide 111 of the cav-PB coding sequence, within the region of similarity to the SRY HMG box.

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 )
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Severe neuroblast loss is seen in the brains of cav1/cav2248 mutant larvae. Many of the remaining neuroblasts exhibit necrosis markers, including aggregation of mitochondria, elevated levels of calcium ions and the presence of ubiquitin-conjugated protein aggregates.

Heterozygosity for cav2248 reduces male viability. The lethal phase for cav2248 heterozygous males is late in embryogenesis after denticle belt formation.

Homozygous cav2248 show an embryonic lethal phase.

Female viability is not compromised in a cross between wild-type females and cav2248 males.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Suppressed by
Suppressor of
Phenotype Manifest In
Additional Comments
Genetic Interactions
Statement
Reference

Sxlf1 suppresses the semi-lethality of homozygous cav2248 males.

SxlfP7B0 suppresses the semi-lethality of homozygous cav2248 males.

The introduction of cav2248 into Su(var)2055 mothers when crossed to SxlfP7B0 males suppresses the Su(var)2055 maternal effect on female viability in the progeny.

Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Fails to complement
Comments
Images (0)
Mutant
Wild-type
Stocks (0)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (1)
Reported As
Symbol Synonym
Name Synonyms
Secondary FlyBase IDs
    References (2)