OMIA:002693-9940 : Achondroplasia, PRICKLE1-related in Ovis aries (sheep) |
Categories: Skeleton phene (incl. short stature & teeth)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 608500 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Probably autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2016
Key variant is published: no
Mapping: In a conference proceeding, Matika et al. (2016) reported that "homozygosity mapping identified a region on chromosome (OAR) 3. Sequencing identified two genes as possible candidates within the region of interest: ADAMTS20 and PRICKLE1 genes."
Molecular basis: In a conference proceeding, Matika et al. (2016) reported that they found a likely causal 10 bp deletion in the PRICKLE1 gene.
Clinical features: Matika et al. (2016): "Achondroplasia in Cheviot sheep, which was first described 45 years ago, is characterised by abnormalities of the head, forelimbs and hooves and surviving affected lambs are generally culled shortly after birth."
Breed:
Cheviot (Sheep) (VBO_0001369).
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 |
|---|---|---|---|---|---|---|
| PRICKLE1 | prickle homolog 1 | Ovis aries | 3 | NC_056056.1 (144349116..144463072) | PRICKLE1 | Homologene, 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 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1553 | Cheviot (Sheep) | Achondroplasia, PRICKLE1-related | PRICKLE1 | deletion, small (<=20) | Naturally occurring variant | 3 | 10 bp deletion in the open reading frame | 2016 | Reference not in PubMed; see OMIA 002693-9940 for reference details |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002693-9940: 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.
| 2016 | Matika, O., Davey, M., Del-Pozo, J., Finlayson, H., Farquharson, C., Headon, D., Kijas, J.W., Lu, Z., McTeir, L., Riggio, V., Schoenebeck, J., Schwarz, T., Staines, K., Woolliams, J., Archibald, A., Bishop, S. : |
| Candidate mutation responsible for inherited skeletal developmental abnormalities in Cheviot sheep. EAAP 2016 67th Annual Meeting of the European Federation of Animal Science, Belfast, United Kingdom, 29/08/16 - 2/09/16 :165, 2016. | |
| 1971 | Wray, C., Mathieson, A.O., Copland, A.N. : |
| An achondroplasia syndrome in South Country Cheviot sheep Veterinary Record 88:521-522, 1971. Pubmed reference: 5104347. |
Edit History
- Created by Imke Tammen2 on 11 May 2023
- Changed by Imke Tammen2 on 11 May 2023
- Changed by Imke Tammen2 on 23 Jan 2024