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

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Single point
Semidominant
1
9
4

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

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PMID
Journal
Year
IF
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