OMIA:001294-9913 : Dwarfism, growth-hormone-receptor deficiency in Bos taurus (taurine cattle)
Categories: Skeleton phene (incl. short stature & teeth)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: 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).
Have human generated variants been created, e.g. through genetic engineering and gene editing
Brahman (Cattle) (VBO_0000159).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
Cite this entry
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|1998||Chase, C.C., Kirby, C.J., Hammond, A.C., Olson, T.A., Lucy, M.C. :|
|Patterns of ovarian growth and development in cattle with a growth hormone receptor deficiency Journal of Animal Science 76:212-219, 1998. Pubmed reference: 9464901.|
|1993||Lucy, M.C., Hammond, A.C., Elsasser, T.H., Olson, T.A., Collier, R.J. :|
|A miniature condition in cattle is associated with under-expression of a normal somatotropin receptor gene [abstract] Program and Abstracts of the 75th Annual Meeting of the Endocrine Society, Las Vegas, Nevada :166, 1993.|
|1991||Hammond, A.C., Elsasser, T.H., Olson, T.A. :|
|Endocrine characteristics of a miniature condition in Brahman cattle: circulating concentrations of some growth-related hormones Proceedings of the Society of Experimental Biology and Medicine 197:450-457, 1991.|
|1990||Elsasser, T.H., Hammond, A.C., Kozak, A.S., Olson, T.A. :|
|Genetic and physiological consequences of a miniature condition in Brahman cattle [abstract] Journal of Animal Science 68:304, 1990. Pubmed reference: 2312422.|
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 05 Aug 2013