Jak3^m8Btlr
Chemically induced Allele Detail

Summary

• Symbol: Jak3^m8Btlr
• Name: Janus kinase 3; mutation 8, Bruce Beutler
• MGI ID: MGI:6305331
• Synonyms: thistle2
• Gene: Jak3 Location: Chr8:72129027-72143221 bp, + strand Genetic Position: Chr8, 34.43 cM
• Alliance: Jak3^m8Btlr page

Mutation origin

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

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: T to A transversion at base pair 71,685,545 (v38) on chromosome 8, or base pair 9,163 in the GenBank genomic region NC_000074 encoding Jak3. The mutation corresponds to residue 2,849 in the mRNA sequence NM_010589 within exon 19 of 25 total exons, and to residue 2,849 in the mRNA sequence NM_001190830 within exon 19 of 24 total exons. he mutation results in a valine (V) to aspartic acid (D) substitution at position 880 (V880D) in the JAK3 protein. (J:274939)
• 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

Notes

https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=2372

References

• Original: J:274939 Choi JH, et al., Mutagenetix entry for thistle2. MGI Direct Data Submission. 2019
• All: 1 reference(s)