OMIA 001952-9823 : Microtia in Sus scrofa

In other species: sheep

Possibly relevant human trait(s) and/or gene(s) (MIM number): 600674

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: Shaziling.

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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Microtia HOXA1 indel, small (<=20) c.451delinsTC 2015 26035869

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