OMIA:001718-9823 : Dwarfism, Schmid metaphyseal chondrodysplasia in Sus scrofa (pig)

Categories: Skeleton phene (incl. short stature & teeth)

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 156500 (trait) , 120110 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2000

Species-specific description: In a single paper, Nielsen et al. (2000) reported a new form of dwarfism in pigs, and its causative mutation.

Inheritance: Nielsen et al. (2000) reported autosomal dominant inheritance.

Mapping: An initial genome scan with 70 microsatellite markers implicated chromosome SSC1. Mapping with additional SSC1 markers mapped the disorder to 8.3cM from marker Sw781. The authors noted that this region is homologous to human chromosome HSA6q21-22.3, which harbours the gene COL10A1, mutations in which cause Schmid metaphyseal chondrodysplasia, a disorder very similar to the pig disorder. Thus the authors had identified a comparative positional candidate gene.

Molecular basis: Following a comparative positional candidate gene approach (described above in the Mapping section), Nielsen et al. (2000) cloned and sequenced the porcine COL10A1 gene and identified a causative missense mutation, namely "a single G to A transition in exon 3 that results in a Gly-to-Arg substitution, G590R, in the carboxyl terminus of the protein".

Clinical features: The disorder is characterised by "Metaphyseal chondrodysplasia in the long bones" (Nielsen et al., 2000).

Breed: Yorkshire (Pig) (VBO_0001212).
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
COL10A1 collagen, type X, alpha 1 Sus scrofa 1 NC_010443.5 (81773818..81766829) COL10A1 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
172 Dwarfism, Schmid metaphyseal chondrodysplasia COL10A1 missense Naturally occurring variant Sscrofa11.1 1 g.81767089C>T c.1768G>A p.(G590R) 2000 11130976 The genomic and CDS position was determined by Stephanie Shields and the effect was confirmed with Ensembl VEP (27/05/2020)

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2012). OMIA:001718-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2000 Nielsen, V.H., Bendixen, C., Arnbjerg, J., Sørensen, C.M., Jensen, H.E., Shukri, N.M., Thomsen, B. :
Abnormal growth plate function in pigs carrying a dominant mutation in type X collagen. Mamm Genome 11:1087-92, 2000. Pubmed reference: 11130976. DOI: 10.1007/s003350010212.

Edit History

  • Created by Frank Nicholas on 17 Sep 2012