Mypn^tm1.1Epu
Targeted Allele Detail

Summary

• Symbol: Mypn^tm1.1Epu
• Name: myopalladin; targeted mutation 1.1, Enkhsaikhan Purevjav
• MGI ID: MGI:5910326
• Synonyms: Mypn^Q526X
• Gene: Mypn Location: Chr10:62951574-63039731 bp, - strand Genetic Position: Chr10, 32.54 cM
• Alliance: Mypn^tm1.1Epu page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:243710
• Parent Cell Line: CMTI-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: The targeting vector was designed to insert a mutation (Q526X) into exon 10. A floxed neo cassette was inserted into exon 10 and was removed via cre-mediated recombination. This mutation is homologous to the nonsense autosomal dominant mutation Q529X in humans with familial restrictive cardiomyopathy. Homozygous mutant mice show impaired mRNA transcription in heart and skeletal muscle relative to wild-type and heterozygous littermates. Western blotting confirmed that no full-length or truncated protein is detectable in skeletal muscle from homozygous mutant mice. (J:243710, J:248575)

Disease models

Expression

In Structures Affected by this Mutation:

5 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 Mypn Mutation: 77 strains or lines available

References

• Original: J:243710 Huby AC, et al., Disturbance in Z-disk mechanosensitive proteins induced by a persistent mutant myopalladin causes familial restrictive cardiomyopathy. J Am Coll Cardiol. 2014 Dec 30;64(25):2765-76
• All: 3 reference(s)