OMIA 001473-9913 : Dwarfism, growth-hormone deficiency in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 262400

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2009

Molecular basis: McCormack et al. (2009) reported a missense mutation: "The sequence of both cDNA clones derived from miniature cattle differed from Bos indicus GH (GenBank AF034386) at base number 641 because there was a cytosine (C) instead of a thymine (T). The C to T change encoded a mutation (threonine to methionine) at amino acid 200 (T200M mutation). The mutation was confirmed by sequencing of an additional 2 miniature cattle and comparing their sequence to 2 normal cattle."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
GH1 growth hormone 1 Bos taurus 19 NC_037346.1 (48119825..48117957) GH1 Homologene, Ensembl, NCBI gene

Variants

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Brahman Dwarfism, growth-hormone deficiency GH1 missense UMD3.1 19 g.48768780C>T c.593C>T p.T198M 2009 19524387 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

Reference


2009 McCormack, BL., Chase, CC., Olson, TA., Elsasser, TH., Hammond, AC., Welsh, TH., Jiang, H., Randel, RD., Okamura, CA., Lucy, MC. :
A miniature condition in Brahman cattle is associated with a single nucleotide mutation within the growth hormone gene. Domest Anim Endocrinol 37:104-11, 2009. Pubmed reference: 19524387. DOI: 10.1016/j.domaniend.2009.04.001.

Edit History


  • Created by Frank Nicholas on 13 Jul 2009
  • Changed by Frank Nicholas on 07 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 15 Aug 2016