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Mybpc3tm2.1Lcrr
Targeted Allele Detail
Nomenclature
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
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:164934
Parent Cell Line:  AT1 (ES Cell)
Strain of Origin:  129S2/SvPasCrl
Mutation
description
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)
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: 2 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:  21 strains or lines available
References
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
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last database update
07/31/2018
MGI 6.12
The Jackson Laboratory