OMIA:001271-9915 : Dwarfism, ACAN-related in Bos indicus (indicine cattle (zebu)) |
In other species: horse , taurine cattle
Categories: Skeleton phene (incl. short stature & teeth) , Growth / size / body region phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 612813 (trait) , 165800 (trait) , 608361 (trait) , 155760 (gene)
Mendelian trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2018
Species-specific description: Information about ACAN related dwarfism in Bos indicus cattle was moved from OMIA:001271-9913 : Dwarfism, ACAN-related in Bos taurus to this Bos indicus entry [19/06/2023]
Molecular basis: Struck et al. (2018) reported a different likely causal variant (ACAN:c.5686insC; p.Val1898fsTer9), homozygosity for which results in a very similar type of dwarfism in the Miniature Zebu breed: the variant was "homozygous in the affected calf and heterozygous in its [Miniature Zebu] parents".
Breed:
Miniature Zebu, United Kingdom of Great Britain and Northern Ireland (Cattle) (VBO_0004799).
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 |
|---|---|---|---|---|---|---|
| ACAN | aggrecan | Bos taurus | 21 | NC_037348.1 (20377694..20447099) | ACAN | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1060 | Miniature Zebu, United Kingdom of Great Britain and Northern Ireland (Cattle) | Bulldog calf | ACAN | insertion, small (<=20) | Naturally occurring variant | ARS-UCD1.2 | 21 | g.20428539_20428540insC | c.5688_5689insC | p.(V1897fs*9) | cDNA position based on transcript NM_173981.2 | 2018 | 30305023 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001271-9915: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2018 | Struck, A.K., Dierks, C., Braun, M., Hellige, M., Wagner, A., Oelmaier, B., Beineke, A., Metzger, J., Distl, O. : |
| A recessive lethal chondrodysplasia in a miniature zebu family results from an insertion affecting the chondroitin sulfat domain of aggrecan. BMC Genet 19:91, 2018. Pubmed reference: 30305023. DOI: 10.1186/s12863-018-0678-8. |
Edit History
- Created by Imke Tammen2 on 19 Jun 2023
- Changed by Imke Tammen2 on 19 Jun 2023