Jak3^m3Btlr
Chemically induced Allele Detail

Summary

• Symbol: Jak3^m3Btlr
• Name: Janus kinase 3; mutation 3, Bruce Beutler
• MGI ID: MGI:5695010
• Synonyms: thistle
• Gene: Jak3 Location: Chr8:72129027-72143221 bp, + strand Genetic Position: Chr8, 34.43 cM
• Alliance: Jak3^m3Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: 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. (J:225935)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Jak3 Mutation: 84 strains or lines available

References

• Original: J:225935 Wang KW, et al., Mutagenetix entry for thistle. MGI Direct Data Submission. 2015
• All: 1 reference(s)