Gatm^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Gatm^m1Btlr
• Name: glycine amidinotransferase (L-arginine:glycine amidinotransferase); mutation 1, Bruce Beutler
• MGI ID: MGI:6113820
• Synonyms: Gatm^mb, mrbig
• Gene: Gatm Location: Chr2:122424954-122441758 bp, - strand Genetic Position: Chr2, 60.63 cM
• Alliance: Gatm^m1Btlr 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 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

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: 21 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)