Mybpc3^tm1Jse
Targeted Allele Detail

Summary

• Symbol: Mybpc3^tm1Jse
• Name: myosin binding protein C, cardiac; targeted mutation 1, Jonathan G Seidman
• MGI ID: MGI:2654419
• Synonyms: MyBP-C^MUT, MyBP-C(Neo), MyBP-C^t
• Gene: Mybpc3 Location: Chr2:90948489-90966861 bp, + strand Genetic Position: Chr2, 50.44 cM, cytoband E1
• Alliance: Mybpc3^tm1Jse 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 details: The 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)

Disease models

Expression

In Structures Affected by this Mutation:

4 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: 43 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)