OMIA:001542-9940 : Hypophosphatemic rickets, autosomal recessive, 1 in Ovis aries (sheep) |
In other species: rabbit
Categories: Skeleton phene (incl. short stature & teeth)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 241520 (trait) , 600980 (gene)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: 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.
Breed:
Corriedale (Sheep) (VBO_0001382).
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 |
|---|---|---|---|---|---|---|
| DMP1 | dentin matrix acidic phosphoprotein 1 | Ovis aries | - | no genomic information (-..-) | DMP1 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 908 | Corriedale (Sheep) | Hypophosphatemic rickets, autosomal recessive, 1 | DMP1 | nonsense (stop-gain) | Naturally occurring variant | Oar_rambouillet_v1.0 | 6 | NC_040257.1:g.112910614C>T | XM_012180327.3:c.433C>T | XP_012035717.1: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]. 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.
| 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