Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Gamttm1Isb
Name:	guanidinoacetate methyltransferase; targeted mutation 1, Dirk Isbrandt
MGI ID:	MGI:3044282
Synonyms:	mGAMT-
Gene:	Gamt  Location: Chr10:80093985-80096846 bp, - strand  Genetic Position: Chr10, 39.72 cM
Alliance:	Gamttm1Isb page

Germline Transmission:	Earliest citation of germline transmission: J:90367
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl+

Allele Type:    Targeted (Null/knockout) Mutation:    Insertion   Mutation details: A neo was inserted into exon 1, creating a frame shift and introducing a premature stop codon. Western blot indicated absence of protein in mutant livers. (J:90367)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

6 anatomical structure(s)

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 Gamt Mutation:	11 strains or lines available

Original:	J:90367 Schmidt A, et al., Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency. Hum Mol Genet. 2004 May 1;13(9):905-21
All:	14 reference(s)