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

Considered a defect: 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


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 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].


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