Myh9^tm7.1Rsad
Targeted Allele Detail

Summary

• Symbol: Myh9^tm7.1Rsad
• Name: myosin, heavy polypeptide 9, non-muscle; targeted mutation 7.1, Robert S Adelstein
• MGI ID: MGI:5285643
• Synonyms: A^D1424N, NMHCII-A D1424N
• Gene: Myh9 Location: Chr15:77644788-77726315 bp, - strand Genetic Position: Chr15, 36.81 cM
• Alliance: Myh9^tm7.1Rsad page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:175367
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted
• Mutation: Nucleotide substitutions
• Mutation details: The endogenous gene was modified by a codon substitution (GAC>AAT) in exon 31 that replaces aspartic acid with asparagine at amino acid position 1424, in the rod region of the protein (p.D1424N), and by insertion of a loxP site flanked PGK-neomycin resistance cassette into intron 31. The selection cassette has been deleted by Cre-mediated excision. This modification replicates a mutation associated with a human MYH9-related disease (MYH9-RD). Immunoblot analysis demonstrates that levels of MYH9 protein are similar in lungs of homozygous mutant, heterozygous and wild-type mice. (J:175367)
• Inheritance: Semidominant

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Myh9 Mutation: 220 strains or lines available

References

• Original: J:175367 Zhang Y, et al., Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A. Blood. 2012;119(1):238-5
• All: 2 reference(s)