Myh9^{tm1.1(MYH9*)Mjk}
Targeted Allele Detail

Summary

• Symbol: Myh9^{tm1.1(MYH9*)Mjk}
• Name: myosin, heavy polypeptide 9, non-muscle; targeted mutation 1.1, Michael J Kelley
• MGI ID: MGI:5285646
• Synonyms: A^E1841K, NMHCII-A E1841K
• Gene: Myh9 Location: Chr15:77644788-77726315 bp, - strand Genetic Position: Chr15, 36.81 cM
• Alliance: Myh9^{tm1.1(MYH9*)Mjk} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:175367
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: The endogenous myosin, heavy polypeptide 9, non-muscle (Myh9) gene was modified by the introduction into exon 39 of a mutation resulting in replacement of glutamic acid with lysine at amino acid position 1841, in the rod region of the protein (E1841K), and by insertion of a loxP-flanked PGK-neo^r cassette into the preceding intron (intron 38). This modification replicates a mutation associated with a human MYH9-related disease (MYH9-RD). The selection cassette has been deleted by Cre recombinase-mediated excision. 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:

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 Myh9 Mutation: 219 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: 4 reference(s)