Kbtbd2^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Kbtbd2^m1Btlr
• Name: kelch repeat and BTB (POZ) domain containing 2; mutation 1, Bruce Beutler
• MGI ID: MGI:5806297
• Synonyms: Kbtbd2^tny, teeny
• Gene: Kbtbd2 Location: Chr6:56754510-56774798 bp, - strand Genetic Position: Chr6, 27.73 cM
• Alliance: Kbtbd2^m1Btlr 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 treatment induced a C-to-T transition at base pair 56,780,389 (GRCm38) on chromosome 6, equivalent to base pair 17,425 in the GenBank genomic region NC_000072. The mutation corresponds to residue 1,004 in the NM_145958 mRNA sequence in exon 4 of 4 total exons. The mutation results in substitution of an arginine (R) with a premature stop codon at amino acid 121 in the protein (p.R121*). Western blot analysis confirmed the absence of protein expression in the liver and mouse embryonic fibroblasts. (J:217665, J:236520)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

5 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 Kbtbd2 Mutation: 50 strains or lines available

Notes

URL for website with data : https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=940

References

• Original: J:217665 Wang T, et al., Real-time resolution of point mutations that cause phenovariance in mice. Proc Natl Acad Sci U S A. 2015 Feb 3;112(5):E440-9
• All: 2 reference(s)