Mice with this knock-in mutation express a catalytically inactive human hepatic lipase (LIPC) under control of the regulatory sequences of the endogenous mouse Lipc gene and the downstream hepatic control sequence from the human apolipoprotein E (APOE) gene. A human LIPC cDNA in which an A-to-G transition at nucleotide position 559 results in replacement of the catalytic serine at amino acid position 145 of the enzyme by glycine (S145G) was inserted in-frame into exon 2 of the mouse gene following the translation initiating ATG codon. A loxP-flanked neomycin selection cassette has been deleted by Cre recombinase-mediated recombination. Western blot analysis using a rabbit polyclonal anti-human LIPC antiserum confirmed the presence of immunoreactive human hepatic lipase in sera of mice bearing this allele. Analysis of postheparin plasma detected no hepatic lipase activity in homozygous mutant mice. (J:229079, J:229080)
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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
C57BL/6
Targeted
Insertion, Single point
Recessive
1
5
2

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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
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N: 正常表型
(#): 上标括号内为相关疾病数量
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