Phenotypes

Also known as Ellis-van Creveld Syndrome

In a textbook example of how to make use of clinical information to identify a comparative candidate gene (based on the homologous human disorder) namely KRT5 (keratin 5), Ford et al. (2005) showed that this disorder in the offspring of a Friesian-Jersey bull is due to a 4051G>A base substitution in the bovine KRT5 gene, leading to an E478K amino-acid substitution. The bull turned out to be mosaic for a de novo mutation. Jacinto et al. (202...

Zhang et al. (2019): "Normally IH begins with a small and painless protrusion of the interdigital skin which sometimes can already be diagnosed at calf age. In the final stage clinical signs of IH are firm tumor like masses found in the interdigital space with skin lesions that can result in deep necrosis and phlegmonous inflammations."

Stillbirth occurs in many different forms, many of which are not inherited, some are multifactorial and others are single locus disorders.