Agtpbp1^m3Btlr
Chemically induced Allele Detail

Summary

• Symbol: Agtpbp1^m3Btlr
• Name: ATP/GTP binding protein 1; mutation 3, Bruce Beutler
• MGI ID: MGI:6199620
• Synonyms: wobble
• Gene: Agtpbp1 Location: Chr13:59597348-59705184 bp, - strand
• Alliance: Agtpbp1^m3Btlr 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 59,474,550 (v38) on chromosome 13, or base pair 82,817 in the GenBank genomic region NC_000079 encoding Agtpbp1. The mutation corresponds to residue 3,019 in the NM_023328 mRNA sequence in exon 21 of 26 total exons. The mutation results in an aspartic acid to valine substitution at position 954 (D954V) in the Nna1 protein. (J:265119)
• 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 Agtpbp1 Mutation: 66 strains or lines available

References

• Original: J:265119 Shatirishvili M, et al., Epidermal-specific deletion of CD44 reveals a function in keratinocytes in response to mechanical stress. Cell Death Dis. 2016 Nov 10;7(11):e2461
• All: 1 reference(s)