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Agtpbp1atms
Spontaneous Allele Detail
Summary
Symbol: Agtpbp1atms
Name: ATP/GTP binding protein 1; ataxia and male sterility
MGI ID: MGI:3612160
Synonyms: AMS, Nna1ams
Gene: Agtpbp1  Location: Chr13:59597348-59705184 bp, - strand  
Alliance: Agtpbp1atms page
Mutation
origin
Strain of Origin:  MRL-Faslpr
Mutation
description
Allele Type:    Spontaneous (Null/knockout)
Mutation:    Nucleotide substitutions
 
Mutation detailsA point mutation (G to C) in the 2423rd bp of exon 17 results in the amino acid substitution of proline for arginine at position 808. (J:278981)
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 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
Notes
It is unknown if mice homozygous for Faslpr on the MRL/Mp-Faslpr atms background are heterozygous or wild-type for atms and if mice homozygous for atms on the MRL/MP-Faslpr atms background are heterozygous or wild-type for Faslpr (J:103944).
References
Original:  J:103945 Harada T, et al., Ataxia and male sterility (AMS) mouse. A new genetic variant exhibiting degeneration and loss of cerebellar Purkinje cells and spermatic cells. Pathol Int. 2003 Jun;53(6):382-9
All:  6 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
11/12/2024
MGI 6.24
The Jackson Laboratory