OMIA 001473-9915 : Dwarfism, growth-hormone deficiency in Bos indicus

In other species: dog , cattle

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 262400 (trait) , 139250 (gene) , 612781 (trait) , 173100 (trait)

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."

Breed: Brahman.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
GH1 Growth hormone 1 Bos indicus - no genomic information (-..-) GH1 Ensembl

Variants

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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
190 Brahman Dwarfism, growth-hormone deficiency GH1 missense Naturally occurring variant c.641C>T p.(T200M) Bos indicus cDNA position based on AF034386, protein position based on AAB92549 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 Imke Tammen2 on 28 Jun 2021
  • Changed by Imke Tammen2 on 11 Jul 2021