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)
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基础信息

模型ID
品系来源
等位基因类型
突变
遗传方式
相关基因
相关疾病
参考文献
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Single point
Semidominant
1
9
4

表型特征

标签摘要:
hm: 纯合子
ht: 杂合子
cn: 条件基因型
cx: 复合型:涉及多基因组
tg: 转基因
ot: 其他:半合子、不确定...
(F): 雌性
(M): 雄性
观察到的表型
N: 正常表型
(#): 上标括号内为相关疾病数量
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