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| Nomenclature |
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Symbol:
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GarsNmf249
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Name:
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glycyl-tRNA synthetase;
neuroscience mutagenesis facility, 249
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MGI ID: |
MGI:3513831 |
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Synonyms: |
Nmf249 |
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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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C57BL/6J
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutations: | |
Insertion, Nucleotide substitutions |
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Mutation details: Sequence analysis revealed that a CC pair in the open reading frame was changed to AAATA. This nucleotide substitution results in the proline at codon 278 to be replaced with a tyrosine and lysine residue without affecting the rest of the open reading frame. This highly conserved proline residue is near the second catalytic domain. Expression of transcript from this allele does not appear to be affected by this mutation. It is predicted to be a gain-of-function mutation. (J:112221)
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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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Notes |
Although this phenotypic mutation was identified in an ENU mutagenesis screen, it is probably of spontaneous origin.
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| References |
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Original: |
J:82238
JAX Neuroscience Mutagenesis Facility,
"Heritable mouse mutants from JAX NMF ENU Mutagenesis Program"
MGI Direct Data Submission 2003;():
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All: |
4 reference(s)
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Analysis Tools
