FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\cav2248
Open Close
General Information
Symbol
Dmel\cav2248
Species
D. melanogaster
Name
FlyBase ID
FBal0263522
Feature type
allele
Associated gene
Dmel\cav
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class

antimorphic allele - genetic evidence

Mutagen
Nature of the Allele
Allele class

antimorphic allele - genetic evidence

(Li et al., 2011)
Mutagen
ethyl methanesulfonate
(Li et al., 2011)
Progenitor genotype
Cytology
Description

Amino acid replacement: ??term.

(Li et al., 2011)

Nucleotide substitution: ?111?.

(Li et al., 2011)

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

(Li et al., 2011)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3R:24,222,459..24,222,459 [+]
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.

(Li et al., 2011)
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
      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.

      (Kuang et al., 2014)

      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.

      (Li et al., 2011)
      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.

      (Li et al., 2011)
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Fails to complement

      cav1

      (Li et al., 2011)
      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
      cav2248
      (Kuang et al., 2014, Li et al., 2011)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)