A bovine model of rhizomelic chondrodysplasia punctata caused by a deep intronic splicing variant in the GNPAT gene.

ABSTRACT:

Background

Genetic defects that occur naturally in livestock species provide valuable models for investigating the molecular mechanisms underlying rare human diseases. Livestock breeds are subject to the regular emergence of recessive genetic defects due to genetic drift and recent inbreeding. At the same time, their large population sizes provide easy access to case and control individuals and to massive amounts of pedigree, genomic and phenotypic information recorded for management and selection purposes. In this study, we investigated a lethal form of recessive chondrodysplasia observed in 21 stillborn calves of the Aubrac beef cattle breed.

Results

Detailed examinations of three affected calves revealed proximal limb shortening, epiphyseal calcific deposits, and other pa

SUBMITTER: Boulling A 

PROVIDER: S-EPMC12090490 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature