OMIA:001473-9915 : Dwarfism, growth-hormone deficiency in Bos indicus (indicine cattle (zebu)) |
In other species: dog , taurine cattle
Categories: Skeleton phene (incl. short stature & teeth)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 262400 (trait) , 139250 (gene) , 612781 (trait) , 173100 (trait)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: 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 (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).
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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 190 | Brahman (Cattle) | 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 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:001473-9915: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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