BMPR-IB gene disruption causes severe limb deformities in pigs.

ABSTRACT: In an attempt to generate g.A746G substitution in the BMPR-IB gene, we unexpectedly obtained BMPR-IB homozygous knockout piglets ( BMPR-IB ^-/-) and heterogeneous knockout piglets with one copy of the A746G mutation ( BMPR-IB ^-/746G) via CRISPR/Cas9 editing. Polymerase chain reaction (PCR) and sequencing revealed complex genomic rearrangements in the target region. All BMPR-IB-disrupted piglets showed an inability to stand and walk normally. Both BMPR-IB ^-/- and BMPR-IB ^-/746G piglets exhibited severe skeletal dysplasia characterized by distorted and truncated forearms (ulna, radius) and disordered carpal, metacarpal, and phalangeal bones in the forelimbs. The piglets displayed more severe deformiti

SUBMITTER: Yang Q 

PROVIDER: S-EPMC9113981 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature