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Gatmm1Btlr
Chemically induced Allele Detail
Summary
Symbol: Gatmm1Btlr
Name: glycine amidinotransferase (L-arginine:glycine amidinotransferase); mutation 1, Bruce Beutler
MGI ID: MGI:6113820
Synonyms: Gatmmb, mrbig
Gene: Gatm  Location: Chr2:122424954-122441758 bp, - strand  Genetic Position: Chr2, 60.63 cM
Alliance: Gatmm1Btlr 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 detailsENU-induced A to G transition at base pair 122,600,744 (v38) on chromosome 2, or base pair 10,534 in the GenBank genomic region NC_000068. The mutation corresponds to residue 822 in the mRNA sequence NM_025961 within exon 5 of 9 total exons. The mutation results in a aspartic acid (D) to glycine (G) substitution at amino acid 254. (J:252049)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 3 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 Gatm Mutation:  22 strains or lines available
References
Original:  J:252049 Turer E, et al., Creatine maintains intestinal homeostasis and protects against colitis. Proc Natl Acad Sci U S A. 2017 Feb 14;114(7):E1273-E1281
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
10/29/2024
MGI 6.24
The Jackson Laboratory