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| Nomenclature |
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Symbol:
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Gamttm1Isb
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Name:
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guanidinoacetate methyltransferase;
targeted mutation 1, Dirk Isbrandt
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MGI ID: |
MGI:3044282 |
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Synonyms: |
mGAMT- |
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Gene:
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Gamt
Location:
Chr10:80258151-80261012 bp, - strand
Genetic Position: Chr10,
39.72 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:90367
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Gamt Mutation:
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1 strain or line available |
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| References |
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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
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All: |
7 reference(s)
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Analysis Tools
