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| Nomenclature |
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Symbol:
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Capn3tm1.1Hiso
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Name:
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calpain 3;
targeted mutation 1.1, Hiroyuki Sorimachi
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MGI ID: |
MGI:4829966 |
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Synonyms: |
Capn3C129S, p94KI |
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Gene:
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Capn3
Location:
Chr2:120456019-120504913 bp, + strand
Genetic Position: Chr2,
60.31 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:163711
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Parent Cell Line:
| E14TG2a (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Single point mutation |
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Mutation details: Exon 3 was replaced with one in which a T to A transversion produces the amino acid substitution of serine for cysteine at position 129 (C129S). A floxed neo cassette inserted downstream of the modified exon was removed by cre mediated recombination. (J:163711)
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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:163711
Ojima K et al.,
"Dynamic distribution of muscle-specific calpain in mice has a key role in physical-stress adaptation and is impaired in muscular dystrophy."
J Clin Invest 2010 Aug 2;120(8):2672-83
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All: |
2 reference(s)
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Analysis Tools
