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-neor 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)
Basic Information
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count