Jak3^m6Btlr
Chemically induced Allele Detail

Summary

• Symbol: Jak3^m6Btlr
• Name: Janus kinase 3; mutation 6, Bruce Beutler
• MGI ID: MGI:6284807
• Synonyms: distortion
• Gene: Jak3 Location: Chr8:72129027-72143221 bp, + strand Genetic Position: Chr8, 34.43 cM
• Alliance: Jak3^m6Btlr 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: ENU-induced A to C transversion at base pair 71,683,978 (v38) on chromosome 8, or base pair 7,596 in the GenBank genomic region NC_000074 encoding Jak3. The mutation corresponds to residue 2,138 in the mRNA sequence NM_010589 within exon 15 of 25 total exons. The mutation results in an asparagine to threonine substitution at position 643 (N643T) in the JAK3 protein. (J:272400)
• 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=3764

References

• Original: J:272400 Zhong X, et al., Mutagenetix entry for distortion. MGI Direct Data Submission. 2019
• All: 1 reference(s)