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Targeted Allele Detail
Symbol: Mypntm1.1Epu
Name: myopalladin; targeted mutation 1.1, Enkhsaikhan Purevjav
MGI ID: MGI:5910326
Synonyms: MypnQ526X
Gene: Mypn  Location: Chr10:62951574-63039731 bp, - strand  Genetic Position: Chr10, 32.54 cM
Alliance: Mypntm1.1Epu page
Germline Transmission:  Earliest citation of germline transmission: J:243710
Parent Cell Line:  CMTI-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsThe 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 6 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 Mypn Mutation:  63 strains or lines available
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
MGI 6.22
The Jackson Laboratory