FB2024_03 , released June 25, 2024
Allele: Dmel\NFATΔab
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General Information
Symbol
Dmel\NFATΔab
Species
D. melanogaster
Name
FlyBase ID
FBal0239771
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

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

Imprecise excision of the progenitor insertion, resulting in a deletion from 1078bp upstream to 9020bp downstream of the original insertion site. This deletion spans the first two exons of the b transcript as well as the two following exons that are common to both the a and b transcripts. No transcription can be detected from the NFAT b promoter. An aberrant transcript can be detected from the a promoter, which is spliced out of frame directly from the first to the fourth exon and which produces a truncated open reading frame of 64 amino acids.

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

Reported as a deletion from 1078bp upstream to 9020bp downstream of the 30 end of the EP1541 insertion sequence. Position of insertion on reference sequence inferred by FlyBase curator.

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 ( 1 )
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

NFATΔab mutants (either homozygous or heterozygous) exhibit expanded synapses compared to controls while average muscle surface area remains unaffected.

A NFATΔab heterozygous background increases transmitter release (mean EJC amplitude) while spontaneous mini EJCs are unaffected. The number of active zones are not affected in these mutants.

Mutants have no obvious morphological defects.

Mutant larvae show reduced survival at high salt concentrations compared to control larvae. Survival of the mutant larvae is significantly reduced at 0.2M NaCl and at 0.4M NaCl only 5% of the mutant first instar larvae survive to adulthood.

Mutant larvae show a remarkable swelling of the anal pads in hypotonic conditions.

Mutant larvae have melanised posterior spiracles after treatment at 60[o]C for 10 minutes. Occasionally the anal pads or the anterior spiracle openings are also coloured.

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)