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Gamttm1Isb
Targeted Allele Detail
Nomenclature
Symbol: Gamttm1Isb
Name: guanidinoacetate methyltransferase; targeted mutation 1, Dirk Isbrandt
MGI ID: MGI:3044282
Synonyms: mGAMT-
Gene: Gamt  Location: Chr10:80258151-80261012 bp, - strand  Genetic Position: Chr10, 39.72 cM
Mutation
origin
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+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 6 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 Gamt Mutation:  1 strain or line available
References
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:  11 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/31/2018
MGI 6.12
The Jackson Laboratory