OMIA 000426-9913 : Gonadal hypoplasia in Bos taurus |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
KIT | KIT proto-oncogene receptor tyrosine kinase | Bos taurus | 6 | NC_037333.1 (70166681..70254049) | KIT | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
748 | Northern Finncattle Swedish Mountain | Gonadal hypoplasia | KIT | cs(29) | complex rearrangement | Naturally occurring variant | 6 | "gonadal hypoplasia in Northern Finncattle and Swedish Mountain cattle is associated with a complex chromosomal rearrangement including a ~500kb duplicated segment from BTA6 which is translocated to BTA29. This duplicated segment includes the entire coding sequence of the KIT gene" | 2013 | 24086604 |
References
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.
2013 | Venhoranta, H., Pausch, H., Wysocki, M., Szczerbal, I., Hänninen, R., Taponen, J., Uimari, P., Flisikowski, K., Lohi, H., Fries, R., Switonski, M., Andersson, M. : | |
Ectopic KIT copy number variation underlies impaired migration of primordial germ cells associated with gonadal hypoplasia in cattle (Bos taurus). PLoS One 8:e75659, 2013. Pubmed reference: 24086604. DOI: 10.1371/journal.pone.0075659. | ||
1996 | Kawakura, K., Miyake, Y.I., Murakami, R.K., Kondoh, S., Hirata, T.I., Kaneda, Y. : | |
Deletion of the SRY region on the Y chromosome detected in bovine gonadal hypoplasia (XY female) by PCR. Cytogenet Cell Genet 72:183-4, 1996. Pubmed reference: 8978769. | ||
1970 | Lauvergne, J.J. : | |
Gonadal hypoplasia and white coat colour in Swedish Highland cattle Journal of Heredity 61:43-44, 1970. Pubmed reference: 5480937. | ||
1968 | Kodagali, S.B., Kerur, V.K. : | |
Gonadal hypoplasia in Gir cattle. Indian Vet J 45:114-8, 1968. Pubmed reference: 4384967. | ||
1964 | Settergren, I. : | |
The ovarian morphology in clinical bovine gonadal hypoplasia with some aspects of its endogrine relations. Stockh Almqvist Wiksells :108, 1964. | ||
1961 | Lagerlöf, N., Settergren, I. : | |
Gonadenhypoplasie beim Rind der Schwedischen Gebirgsrasse. Zuchthygiene 5:141-158, 1961. | ||
1956 | Lagerloff, N. : | |
[Gonadal hypoplasia in cattle of a Swedish mountain breed; summary of 20 years of study]. Ann Ostet Ginecol 78:87-105, 1956. Pubmed reference: 13373157. | ||
1953 | Lagerloef, N., Settergren, I. : | |
Results of seventeen years control of hereditary ovarian hypoplasia in the Swedish Highland Breed. Cornell Veterinarian 43:52-64, 1953. Pubmed reference: 13010079. | ||
Lagerlof, N., Boyd, H. : | ||
Ovarian hypoplasia and other abnormal conditions in the sexual organs of cattle of the Swedish Highland breed; results of postmortem examination of over 6,000 cows. Cornell Vet 43:64-79, 1953. Pubmed reference: 13010080. | ||
1943 | Eriksson, K. : | |
Hereditary forms of sterility in cattle. biological and genetical investigations. Håkan Ohlssons Boktryckeri :155, 1943. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 13 Oct 2013