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| Nomenclature |
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Symbol:
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GarsC201R
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Name:
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glycyl-tRNA synthetase;
Cys201Arg
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MGI ID: |
MGI:3760297 |
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Gene:
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Gars
Location:
Chr6:55038001-55079504 bp, + strand
Genetic Position: Chr6,
27.29 cM
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Mutation
origin |
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Strain of Origin:
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BALB/cAnN
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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Mutation details: ENU mutagenesis generated a T to C transition at base pair 456 that results in an amino acid substitution of R for C at residue 201 (C201R). Enzymatic assays confirmed a 60% drop in activity in extracts from P15 homozygotes. (J:149830)
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Inheritance: | |
Dominant |
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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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| References |
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Original: |
J:149830
Achilli F et al.,
"An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy."
Dis Model Mech 2009 Jul-Aug;2(7-8):359-73
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All: |
4 reference(s)
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Analysis Tools
