Allele/Variant

Jak3m3Btlr

Species
Mus musculus
Symbol
Jak3m3Btlr
Category
allele
Allele of gene
Jak3
Transgenic Constructs
None
Synonyms
  • thistle
Description
ENU-induced A to T transversion at base pair 71,685,383 (v38) on chromosome 8, or base pair 9,001 in the GenBank genomic region NC_000074. The mutation is located within the acceptor splice site of intron 18 (in both protein-coding transcripts on Ensembl; both transcripts encode the same protein), two nucleotides from exon 20. The effect of the mutation at the mRNA and protein level is unknown. One possibility is that aberrant splicing would cause skipping of the 190-base pair exon 19 (out of 25 total exons) and a frame-shift that would result in coding of 7 aberrant amino acids followed by a premature stop codon in exon 20.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations