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
Disease-related: 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 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 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