Kbtbd2^m2Btlr
Chemically induced Allele Detail

Summary

• Symbol: Kbtbd2^m2Btlr
• Name: kelch repeat and BTB (POZ) domain containing 2; mutation 2, Bruce Beutler
• MGI ID: MGI:5806298
• Synonyms: infinitesimal
• Gene: Kbtbd2 Location: Chr6:56754510-56774798 bp, - strand Genetic Position: Chr6, 27.73 cM
• Alliance: Kbtbd2^m2Btlr 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 T-to-C transition at base pair 56,779,090 (GRCm38) on chromosome 6, equivalent to base pair 19,186 in the GenBank genomic region NC_000072. The mutation corresponds to residue 2,303 in the NM_145958 mRNA sequence in exon 4 of 4 total exons. The mutation results in a tyrosine (Y) to histidine (H) substitution at position 554 (p.Y554H) in the protein. (J:236667)
• 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 Kbtbd2 Mutation: 50 strains or lines available

References

• Original: J:236667 Chen Z, et al., Mutagenetix entry for infinitesimal. MGI Direct Data Submission. 2016
• All: 1 reference(s)