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| Nomenclature |
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Symbol:
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Pla2g6m1Sein
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Name:
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phospholipase A2, group VI;
mutation 1, Ken-ichiro Seino
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MGI ID: |
MGI:4361203 |
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Synonyms: |
Pla2g6inad |
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Gene:
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Pla2g6
Location:
Chr15:79286228-79328390 bp, - strand
Genetic Position: Chr15,
37.7 cM
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Mutation
origin |
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Strain of Origin:
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C57BL/6JJcl
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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 induced an A to T transition at position 1117 bp that results in an amino acid substitution of arginine for glycine at position 373 (G373R). This mutation is found in patients with infantile neuroaxonal dystrophy. (J:155328)
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Inheritance: | |
Recessive |
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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:153195
Watabe K et al.,
"A mouse model for infantile neuroaxonal dystrophy with PLA2G6 mutation generated by ENU-mutagenesis"
Neuropathology 2008;28():184 (O-1-A11 Abstr.)
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All: |
3 reference(s)
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Analysis Tools
