Generation and validation of a conditional knockout mouse model for the study of the Smith-Lemli-Opitz syndrome.

ABSTRACT: Smith-Lemli-Opitz Syndrome (SLOS) is a developmental disorder (OMIM #270400) caused by autosomal recessive mutations in the Dhcr7 gene, which encodes the enzyme 3β-hydroxysterol-Δ7 reductase. SLOS patients present clinically with dysmorphology and neurological, behavioral, and cognitive defects, with characteristically elevated levels of 7-dehydrocholesterol (7-DHC) in all bodily tissues and fluids. Previous mouse models of SLOS have been hampered by postnatal lethality when Dhcr7 is knocked out globally, while a hypomorphic mouse model showed improvement in the biochemical phenotype with aging and did not manifest most other characteristic features of SLOS. We report the generation of a conditional knockout of Dhcr7 (Dhcr7^flx/flx), validated by generating a mouse with a liver-s

SUBMITTER: Kanuri B 

PROVIDER: S-EPMC7890206 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature