|
|
| Nomenclature |
|
Symbol:
|
Mybpc3tm1Jse
|
|
Name:
|
myosin binding protein C, cardiac;
targeted mutation 1, Jonathan G Seidman
|
|
MGI ID: |
MGI:2654419 |
|
Synonyms: |
MyBP-C(Neo), MyBP-Ct |
|
Gene:
|
Mybpc3
Location:
Chr2:91118144-91136516 bp, + strand
Genetic Position: Chr2,
50.44 cM, cytoband E1
|
|
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 (knock-out) |
|
Mutation: | |
Insertion |
| |
|
Mutation details: The gene was disrupted by insertion of a floxed PGK-neo cassette into exon 30 via homologous recombination. The mutant allele produces a protein that contains 166 novel residues and is 30 amino acids shorter than the wild-type protein. (J:58295)
|
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| 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:
|
3 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: |
2 reference(s)
|
|