Mutant Fam20c knock-in mice recapitulate both lethal and non-lethal human Raine Syndrome.

ABSTRACT:

Background

Inactivation or mutations of FAM20C causes human Raine Syndrome, which manifests as lethal osteosclerosis bone dysplasia or non-lethal hypophosphatemia rickets. However, it is only hypophosphatemia rickets that was reported in the mice with Fam20c deletion or mutations. To further investigate the local and global impacts of Fam20c mutation, we constructed a knock-in allele carrying Fam20c mutation (D446N) found in the non-lethal Raine Syndrome. The Fam20c^D446N allele replaced the WT Fam20c by 3.6Kb Col1a1-Cre to get the conditional knock-in mice, and by Hprt-cre to get conventional knock-in mice, respectively.

Results

The radiology, serum biochemistry and immunohistochemistry indicated that all conditional and most conventional Fam20c^D446N kn

SUBMITTER: Chen M 

PROVIDER: S-EPMC11697891 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature