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)

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

Considered a defect: 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

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
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