About   Help   FAQ
Targeted Allele Detail
Symbol: Mybpc3tm2.1Lcrr
Name: myosin binding protein C, cardiac; targeted mutation 2.1, Lucie Carrier
MGI ID: MGI:4836388
Gene: Mybpc3  Location: Chr2:91118144-91136516 bp, + strand  Genetic Position: Chr2, 50.44 cM, cytoband E1
Germline Transmission:  Earliest citation of germline transmission: J:164934
Parent Cell Line:  AT1 (ES Cell)
Strain of Origin:  129S2/SvPasCrl
Allele Type:    Targeted (Hypomorph)
Mutations:    Insertion, Single point mutation
Mutation detailsExon 6 was replaced with one containing a G to A transition within the splice donor site and a floxed neo cassette. Cre mediated recombination removed the neo cassette. RT-PCR detects three isoforms. Isoform mutant-1 contains the missense transition predicted to produce an E264K 150 KDa protein. Isoform mutant-2 and mutant-3 lack exon 6, inducing a frameshift. Isoform mutant-2 contains a premature termination codon in exon 9 (nonsense) and is predicted to produce a 32 KDa truncated protein, including 41 novel amino acids. Isoform mutant-3 retains 46 bp of intron 8 followed by a new cryptic acceptor splice site (deletion/insertion), which restores the reading frame and is predicted to produce a 147 KDa protein, containing an internal deletion and 41 novel amino acids. Isoform mutant-2 and -3 represent 50% of the total mRNA in homozygous mice. Western blot analysis detected all three predicted protein products. A greater than 80% reduction in total mRNA and protein levels was reported. (J:164934)
View phenotypes and curated references 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:  21 strains or lines available
Original:  J:164934 Vignier N, et al., Nonsense-mediated mRNA decay and ubiquitin-proteasome system regulate cardiac myosin-binding protein C mutant levels in cardiomyopathic mice. Circ Res. 2009 Jul 31;105(3):239-48
All:  7 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.11
The Jackson Laboratory