Categories: Skeleton phene (incl. short stature & teeth)

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 262500 (trait) , 604271 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: no

Species-specific name: GHRD

Species-specific description: Homozygotes for this mutation have a mature weight and size approximately 70% that of normal Brahman cattle. In a comparison of ovarian growth and development between dwarfs and normals, Chase et al. (1998) showed that the dwarfs have abnormally high levels of circulating growth hormone, and abnormally low levels of insulin-like-growth factor I, resulting in failure to maintain follicular growth during the midluteal phase of the estrous cycle. However, follicular growth resumes following luteolysis when secretion of luteinising hormone increases. In being due to a deficiency of growth hormone receptor, GHRD in Brahman cattle is homologous with sex-linked dwarfism in chickens. The molecular basis of this disorder has still to be determined.

History: This mutation occurred in the Brahman herd at the USDA Subtropical Agricultural Research Station (STARS), near Beltsville, Florida (Elsasser et al., 1990).

Breed: Brahman (Cattle) (VBO_0000159).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).