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| Nomenclature |
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Symbol:
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Mybpc3tm1.1Jse
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Name:
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myosin binding protein C, cardiac;
targeted mutation 1.1, Jonathan G Seidman
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MGI ID: |
MGI:2654420 |
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Synonyms: |
MyBP-C(Lox), MyBP-C(MUT), MyBP-Ct |
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Gene:
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Mybpc3
Location:
Chr2:91118144-91136516 bp, + strand
Genetic Position: Chr2,
50.44 cM, cytoband E1
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:58295
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: This allele is a derivative of Mybpc3tm1Jse. Mutant animals were mated to TgN(EIIa-cre)C5379Lmgd to delete the PGK-neo cassette, leaving behind a 94 bp residual loxP sequence within exon 30. The resulting mutant allele produces a protein that is 174 amino acids shorter than the wild-type protein and contains 32 novel amino acids. (J:58295)
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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 Mybpc3 Mutation:
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3 strains or lines available |
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| References |
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Original: |
J:58295
McConnell BK et al.,
"Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice [published erratum appears in J Clin Invest 1999 Dec;104(12):1771]"
J Clin Invest 1999 Nov;104(9):1235-44
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All: |
10 reference(s)
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Analysis Tools
