The Mafb cleft-associated variant H131Q is not required for palatogenesis in the mouse.

ABSTRACT:

Background

Orofacial clefts (OFCs) are common birth defects with complex etiology. Genome wide association studies for OFC have identified SNPs in and near MAFB. MAFB is a transcription factor critical for structural development of digits, kidneys, skin, and brain. MAFB is also expressed in the craniofacial region. Previous sequencing of MAFB in a Filipino population revealed a novel missense variant significantly associated with an increased risk for OFC. This MAFB variant, leading to the amino acid change H131Q, was knocked into the mouse Mafb, resulting in the Mafb^H131Q allele. The Mafb^H131Q construct was engineered to allow for deletion of Mafb ("Mafb^del ").

Results

Mafb^del/del animals died shortly after birth. Conversely, Mafb

SUBMITTER: Paul BJ 

PROVIDER: S-EPMC9266196 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature