Gonadal hypoplasia
- Phene ID
- 732
- Name
- Gonadal hypoplasia
- Phene Name
- N/A
- OMIA ID
- 426
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2013
| Symbol | Gene ID | Chromosome | Description |
|---|---|---|---|
| KIT | 280832 | 6 | KIT proto-oncogene receptor tyrosine kinase |
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 748 | Gonadal hypoplasia | 280832 | 1 | 29 | N/A | N/A | N/A |
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Bohuskulla, Sweden (Cattle) | 1510 | 9913 | http://purl.obolibrary.org/obo/VBO_0005273 |
| Chillingham (Cattle) | 264 | 9913 | http://purl.obolibrary.org/obo/VBO_0000179 |
| Fjällnära boskap, Sweden (Cattle) | 447 | 9913 | http://purl.obolibrary.org/obo/VBO_0005274 |
| Pohjoissuomenkarja, Finland (Cattle) | 905 | 9913 | http://purl.obolibrary.org/obo/VBO_0004751 |
| Svensk Fjällras (Cattle) | 1513 | 9913 | http://purl.obolibrary.org/obo/VBO_0000390 |
| Svensk kullig boskap (skb), Sweden (Cattle) | 1511 | 9913 | http://purl.obolibrary.org/obo/VBO_0005281 |
| Väneko, Sweden (Cattle) | 1512 | 9913 | http://purl.obolibrary.org/obo/VBO_0005283 |
This disorder is associated with white coat colour (Lauvergne, 1970).
Aware that the molecular cause of colour-sidedness in cattle (OMIA:001576-9913) results from reciprocal translocation between segments on chromosomes BTA6 (containing the KIT gene) and BTA29, Venhoranta et al. (2013) built on their mapping results (above) with cytogenetic and PCR analyses, and concluded "that homozygosity of a ~500 kb chromosomal segment translocated from BTA6 to BTA29 (Cs29 allele) is the underlying genetic mechanism responsible for gonadal hypoplasia. The duplicated segment includes the KIT gene that is known to regulate the migration of germ cells and precursors of melanocytes. This duplication is also one of the two translocations associated with colour sidedness in various cattle breeds."