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Article

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

BMC molecular and cell biology - 2 Jan 2025

Chen Mengnan, Sun Dongmei, Yee Siu-Pok, Yuan Zhaoyang, Lin Li, Cui Bing, Wang Yi, Liu Chao, Liu Peihong

Abstract excerpt

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...

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Anemia, Dyserythropoietic, Congenital
Cleft Palate
Familial Hypophosphatemic Rickets
Fibroblast Growth Factor-23
Fibroblast Growth Factors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Gene Knock-In Techniques

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Identifiers

PMID: 39748245
DOI: 10.1186/s12860-024-00526-4
PMCID: PMC11697891

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