[HTML][HTML] Disruption of cholesterol 7α-hydroxylase gene in mice: I. Postnatal lethality reversed by bile acid and vitamin supplementation
S Ishibashi, M Schwarz, PK Frykman, J Herz… - Journal of Biological …, 1996 - ASBMB
Mice deficient in cholesterol 7α-hydroxylase, the rate-limiting enzyme of bile acid
biosynthesis, were constructed by targeted disruption of the Cyp7 gene. The introduced
mutation removed exons 3-5 of the gene and gave rise to a null allele that encoded no
immunoreactive or enzymatically active protein. Heterozygous carriers of the disrupted gene
(Cyp7+/−) were phenotypically normal. Homozygous animals (Cyp7−/−) appeared normal at
birth, but died within the first 18 days of life. Approximately 40% of the animals died between …
biosynthesis, were constructed by targeted disruption of the Cyp7 gene. The introduced
mutation removed exons 3-5 of the gene and gave rise to a null allele that encoded no
immunoreactive or enzymatically active protein. Heterozygous carriers of the disrupted gene
(Cyp7+/−) were phenotypically normal. Homozygous animals (Cyp7−/−) appeared normal at
birth, but died within the first 18 days of life. Approximately 40% of the animals died between …