Allele/Variant

Jak3m2Btlr

Species
Mus musculus
Symbol
Jak3m2Btlr
Category
allele
Allele of gene
Jak3
Transgenic Constructs
None
Synonyms
  • citron
Description
ENU mutagenesis induced a C to T transition at base pair 71,686,976 (v38) on chromosome 8, or base pair 10,594 in the GenBank genomic region NC_000074. The mutation is located within the donor splice site of intron 22, four nucleotides from the previous exon. The effect of the mutation at the cDNA and protein level is unknown. One possibility is that aberrant splicing would cause skipping of the 118 base pair exon 22 (out of 25 total exons; exon 22 encodes amino acids 990-1028) and a frame-shift that results in coding of two aberrant amino acids followed by a premature stop codon in exon 23.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations