Klhl6^M7Btlr
Chemically induced Allele Detail

Summary

• Symbol: Klhl6^M7Btlr
• Name: kelch-like 6; mutation 7, Bruce Beutler
• MGI ID: MGI:6284794
• Synonyms: Besmirched
• Gene: Klhl6 Location: Chr16:19765242-19801766 bp, - strand Genetic Position: Chr16, 12.32 cM
• Alliance: Klhl6^M7Btlr 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 T transversion at base pair 19,949,447 (v38) on chromosome 16, or base pair 33,603 in the GenBank genomic region NC_000082 within the splice donor site of intron 5 (3-base pairs from exon 5). The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in the use of a cryptic site in intron 5. The mutation would result in an 85-base pair insertion of intron 5, causing a frame-shifted protein product beginning after amino acid 381 of the protein (which is normally 619 amino acids in length), and termination after the inclusion of six aberrant amino acids. (J:272397)
• Inheritance: Dominant

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 Klhl6 Mutation: 48 strains or lines available

Notes

https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=3773

References

• Original: J:272397 Zhong X, et al., Mutagenetix entry for Besmirched. MGI Direct Data Submission. 2019
• All: 1 reference(s)