OMIA:000426-9913 : Gonadal hypoplasia in Bos taurus (taurine cattle) |
In other species: sheep
Categories: Reproductive system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 164920 (gene)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2013
Cross-species summary: Incomplete development or underdevelopment of the gonads (testes or ovaries).
Species-specific description: This disorder is associated with white coat colour (Lauvergne, 1970).
Mapping: By conducting a GWAS on 21 affected and 75 control Northern Finncattle and Swedish Mountain cattle, each genotyped with the Illumina BovineHD SNp chip (yielding 647,971 informative SNPs), Venhoranta et al. (2013) mapped this disorder to chromosome BTA29. Further testing identified a 2.81Mb region between 17.69 Mb and 20.50 Mb. A copy number variant (CNV) analysis identified "a CNV segment on BTA6, extending from 71.60 Mb to 72.13 Mb and containing the KIT gene" and another on BTA29, but both of these were thought to reflect associations with the extent of white coat colour rather than the disorder.
Molecular basis: 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."
Breeds:
Chillingham (Cattle) (VBO_0000179),
Fjällnära boskap, Sweden (Cattle) (VBO_0005274),
Pohjoissuomenkarja, Finland (Cattle) (VBO_0004751),
Svensk Fjällras (Cattle) (VBO_0000390).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| KIT | KIT proto-oncogene receptor tyrosine kinase | Bos taurus | 6 | NC_037333.1 (70166692..70254049) | KIT | Ensembl, NCBI gene |
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 | Variant Type | Variant Effect | Source of Genetic Variant | Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 748 | Bohuskulla, Sweden (Cattle) Chillingham (Cattle) Fjällnära boskap, Sweden (Cattle) Pohjoissuomenkarja, Finland (Cattle) Svensk Fjällras (Cattle) Svensk kullig boskap (skb), Sweden (Cattle) Väneko, Sweden (Cattle) | Gonadal hypoplasia | KIT | cs(29) | complex rearrangement | Naturally occurring variant | Not currently ISAG evaluated | 29 | "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 | Additional breed information based on Hall et al. (2021) and PMID:40624682 |
* Variant pathogenicity for single gene diseases as evaluated by an expert panel of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization Standing Committee
Contact us
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:000426-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2025 | Hinken, J., Vanhala, T., Gòdia, M., Johnsson, M., Johansson, A.M. : |
| Translocations associated with colour-sidedness are common in northern Swedish cattle breeds. Hereditas 162:122, 2025. Pubmed reference: 40624682. DOI: 10.1186/s41065-025-00481-w. | |
| 2021 | Hall, S.J.G., Brenig, B., Ashdown, R.A., Curry, M.R. : |
| Conservation of rare wild‐living cattle Bos taurus (L.): coat colour gene illuminates breed history, and associated reproductive anomalies have not reduced herd fertility. Journal of Zoology :jzo.12929, 2021. DOI: 10.1111/jzo.12929. | |
| 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. DOI: 10.1159/000134182. | |
| 1970 | Lauvergne, J.J. : |
| Gonadal hypoplasia and white coat colour in Swedish Highland cattle J Hered 61:43-4, 1970. Pubmed reference: 5480937. DOI: 10.1093/oxfordjournals.jhered.a108031. | |
| 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 | 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. | |
| Lagerlöf, N., Settergren, I. : | |
| Results of seventeen years; control of hereditary ovarian hypoplasia in cattle of the Swedish Highland breed. Cornell Vet 43:52-64, 1953. Pubmed reference: 13010079. | |
| 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
- Changed by Imke Tammen2 on 24 Oct 2024
- Changed by Imke Tammen2 on 20 Jun 2025
- Changed by Imke Tammen2 on 09 Jul 2025