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Targeted Allele Detail
Symbol: Mybpc3tm1.1Jse
Name: myosin binding protein C, cardiac; targeted mutation 1.1, Jonathan G Seidman
MGI ID: MGI:2654420
Synonyms: MyBP-C(Lox)
Gene: Mybpc3  Location: Chr2:91118144-91136516 bp, + strand  Genetic Position: Chr2, 50.44 cM, cytoband E1
Germline Transmission:  Earliest citation of germline transmission: J:58295
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsThis allele is a derivative of Mybpc3tm1Jse. Mutant animals were mated to Tg(EIIa-cre)C5379Lmgd to delete the PGK-neo cassette, leaving behind a 97 bp residual loxP sequence within exon 30. The resulting mutant allele generates a transcript that skips the 5' half of exon 30 and that encodes a peptide that is 30 amino acids shorter than the wild-type peptide and contains 166 novel amino acids. (J:58295)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 6 anatomical structures
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:  24 strains or lines available
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:  2 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
MGI 6.16
The Jackson Laboratory