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Agtpbp1m3Btlr
Chemically induced Allele Detail
Nomenclature
Symbol: Agtpbp1m3Btlr
Name: ATP/GTP binding protein 1; mutation 3, Bruce Beutler
MGI ID: MGI:6199620
Synonyms: wobble
Gene: Agtpbp1  Location: Chr13:59449534-59557370 bp, - strand  
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 detailsENU-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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structures
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:  11 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/12/2019
MGI 6.14
The Jackson Laboratory