OMIA:001542-9940 : Hypophosphatemic rickets, autosomal recessive, 1 in Ovis aries (sheep)

In other species: rabbit

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

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 241520 (trait) , 600980 (gene)

Links to MONDO diseases:

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2011

Species-specific name: Inherited rickets

Mapping: Using the ovine SNP50 BeadChip, Zhao et al. (2011) mapped this disorder to a 6Mb region of chromosome OAR6.

Molecular basis: Zhao et al. (2011) reported this disorder in Corriedale sheep as being due to a nonsense mutation in exon 6 of the DMP1 gene.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breed: Corriedale (Sheep) (VBO_0001382).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
DMP1 dentin matrix acidic phosphoprotein 1 Ovis aries - no genomic information (-..-) DMP1 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 Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
908 Corriedale (Sheep) Hypophosphatemic rickets, autosomal recessive, 1 DMP1 nonsense (stop-gain) Naturally occurring variant Oar_rambouillet_v1.0 6 g.112910614C>T c.433C>T p.(R145*) Published as g.112213795C>T / c.250C>T. Protein and cDNA positions in this table are based on XP_012035717.1 and XM_012180327.3. 2011 21747952 The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2013). OMIA:001542-9940: 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.

2011 Dittmer, K.E., Howe, L., Thompson, K.G., Stowell, K.M., Blair, H.T., Cockrem, J.F. :
Normal vitamin D receptor function with increased expression of 25-hydroxyvitamin D(3)-24-hydroxylase in Corriedale sheep with inherited rickets. Res Vet Sci 91:362-9, 2011. Pubmed reference: 20965534. DOI: 10.1016/j.rvsc.2010.09.017.
Dittmer, KE., Firth, EC., Thompson, KG., Marshall, JC., Blair, HT. :
Changes in bone structure of Corriedale sheep with inherited rickets: A peripheral quantitative computed tomography assessment. Vet J 187:369-73, 2011. Pubmed reference: 20117029. DOI: 10.1016/j.tvjl.2009.12.025.
Zhao, X., Dittmer, K.E., Blair, H.T., Thompson, K.G., Rothschild, M.F., Garrick, D.J. :
A novel nonsense mutation in the DMP1 gene identified by a genome-wide association study is responsible for inherited rickets in Corriedale sheep. PLoS One 6:e21739, 2011. Pubmed reference: 21747952. DOI: 10.1371/journal.pone.0021739.
Zhao, X., Dittmer, K.E., Rothschild, M.F., Blair, H.T., Thompson, K.G., Garrick, D.J. :
A Genome-Wide Association Study (GWAS) Discovered A Novel Nonsense Mutation In Dmp1 Gene Responsible To Inherited Rickets In Corriedale Sheep Plant & Animal Genomes XIX Conference :Abstract P554, 2011.
2009 Dittmer, KE., Thompson, KG., Blair, HT. :
Pathology of inherited rickets in Corriedale sheep. J Comp Pathol 141:147-55, 2009. Pubmed reference: 19524252. DOI: 10.1016/j.jcpa.2009.04.005.
2007 Thompson, KG., Dittmer, KE., Blair, HT., Fairley, RA., Sim, DF. :
An outbreak of rickets in Corriedale sheep: evidence for a genetic aetiology. N Z Vet J 55:137-42, 2007. Pubmed reference: 17534417. DOI: 10.1080/00480169.2007.36757.

Edit History

  • Created by Frank Nicholas on 11 Feb 2011
  • Changed by Frank Nicholas on 08 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 12 Mar 2012
  • Changed by Frank Nicholas on 25 Nov 2013