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OMIA:000219-9615 : Coloboma in Canis lupus familiaris (dog)

In other species: Mexican tetra , swan goose , chicken , domestic cat , horse , llama , taurine cattle , snow leopard

Categories: Vision / eye phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 120200 (trait) , 120300 (trait) , 120330 (trait) , 120400 (trait) , 120430 (trait) , 120433 (trait) , 216800 (trait) , 216820 (trait) , 243910 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: no

Cross-species summary: Colobomas are congenital eye abnormalities where normal tissue in or around the eye are missing.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000219-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2021 Dufour, V.L., Cohen, J.A., Holle, D.M., Aguirre, G.D. :
Optic nerve colobomas associated with unilateral focal serous retinal detachment in a dog - In-vivo imaging and outcome following laser retinopexy. Vet Ophthalmol 24:645-652, 2021. Pubmed reference: 34709702. DOI: 10.1111/vop.12948.
Genetics Committee of the American College of Veterinary Opthalmologists :
The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf , 2021.
1981 Gelatt, K.N., Powell, G., Huston, K. :
Inheritance of microphthalmia with coloboma in the Australian shepherd dog. American Journal of Veterinary Research 42:1686-1690, 1981. Pubmed reference: 7325429.
1973 Gelatt, K.N., McGill, L.D. :
Clinical characteristics of microphthalmia with colobomas of the Australian Shepherd dog Journal of the American Veterinary Medical Association 162:393-396, 1973. Pubmed reference: 4691375.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 27 Nov 2011
  • Changed by Imke Tammen2 on 17 Jun 2023