OMIA:001952-9823 : Microtia in Sus scrofa (pig)

In other species: sheep

Categories: Hearing / vestibular / ear phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 600674 (trait) , 142992 (gene) , 612109 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2015

Molecular basis: Qiao et al. (2015): c.451delinsTC

Clinical features: As reported by Qiao et al. (2015), "Microtia is a congenital deformity of the out ear, characterized by small, abnormally shaped auricle. It is usually accompanied by narrowed, blocked or absent ear canal and underdeveloped middle ear because the out ear and the middle ear evolve from a common embryological origin"

Breed: Huazhong Two-End Black - Shaziling, China (Pig) (VBO_0012786).
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
HOXA1 homeobox A1 Sus scrofa 18 NC_010460.4 (45477561..45480306) HOXA1 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
624 Microtia HOXA1 delins, small (<=20) Naturally occurring variant Sscrofa11.1 18 g.45478109delinsTC c.451delinsTC p.(L151fs) 2015 26035869 The genomic location on Sscrofa11.1 was determined and the effect was confirmed with Ensembl VEP in the following transcript: XM_003134844.5 by Stephanie Shields (27/05/2020)

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2015). OMIA:001952-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2015 Qiao, R., He, Y., Pan, B., Xiao, S., Zhang, X., Li, J., Zhang, Z., Hong, Y., Xing, Y., Ren, J. :
Understanding the molecular mechanisms of human microtia via a pig model of HOXA1 syndrome. Dis Model Mech 8:611-22, 2015. Pubmed reference: 26035869. DOI: 10.1242/dmm.018291.

Edit History

  • Created by Frank Nicholas on 16 Apr 2015
  • Changed by Frank Nicholas on 16 Apr 2015