Germline mutation within COL2A1 associated with lethal chondrodysplasia in a polled Holstein family.

ABSTRACT:

Background

The bulldog calf syndrome is a lethal form of the inherited congenital chondrodysplasias. Among the progeny of the polled Holstein bull Energy P cases of lethal chondrodysplasia were observed. Pedigrees of the cases and the frequency of 3/8 cases among the offspring of Energy P at our teaching and experimental farm Ruthe (LuFG Ruthe) supported the assumption of a germline mutation with a mosaic of normal and defective sperm.

Results

All three malformed calves were examined using necropsy, histopathology and computed tomography scanning. The phenotypic appearance of the affected calves was highly similar; they presented with severe disproportionate dwarfism and reduced body weight. The syndrome was characterized by brachygnathia superior, bilateral palatoschisis, s

SUBMITTER: Reinartz S 

PROVIDER: S-EPMC5633883 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature