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Mybpc3tm1Jse
Targeted Allele Detail
Summary
Symbol: Mybpc3tm1Jse
Name: myosin binding protein C, cardiac; targeted mutation 1, Jonathan G Seidman
MGI ID: MGI:2654419
Synonyms: MyBP-CMUT, MyBP-C(Neo), MyBP-Ct
Gene: Mybpc3  Location: Chr2:90948489-90966861 bp, + strand  Genetic Position: Chr2, 50.44 cM, cytoband E1
Alliance: Mybpc3tm1Jse page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:58295
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsThe gene was disrupted by insertion of a floxed PGK-neo cassette into exon 30 via homologous recombination. The mutant allele generates a transcript that skips exon 30 and that codes for a peptide that contains 32 novel residues and is 174 amino acids shorter than the wild-type peptide. (J:58295)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 5 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Mybpc3 Mutation:  41 strains or lines available
References
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
All:  28 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory