You are here: OMIA / Search / OMIA:002811 / dog

OMIA:002811-9615 : Multiple ocular defects, COL11A1-related in Canis lupus familiaris (dog)

Categories: Vision / eye phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 604841 (trait) , 120280 (gene)

Links to MONDO diseases:

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2023

Cross-species summary: Similar to Stickler syndrome, Type 2 in humans

Species-specific name: Multiocular defect

Species-specific symbol: MOD

Molecular basis: Stanbury et al. (2023) "carried out whole genome sequencing on an Old English Sheepdog that had been diagnosed with [multiocular defects]. ... Whole genome sequence filtered variants private to the case, shared with another Old English Sheepdog genome and predicted to be deleterious were genotyped in an initial cohort of six Old English Sheepdogs (three affected by multiocular defect and three control dogs without evidence of inherited eye disease). Only one of the twenty-two variants segregated correctly with multiocular defect. The variant is a single nucleotide substitution, located in the collagen-type gene COL11A1, c.1775T>C, that causes an amino acid change, p.Phe1592Ser. Genotyping of an additional 14 Old English Sheepdogs affected by multiocular defect revealed a dominant mode of inheritance with four cases heterozygous for the variant. Further genotyping of hereditary cataract-affected Old English Sheepdogs revealed segregation of the variant in eight out of nine dogs."

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

Clinical features: Stanbury et al. (2023) "Affected dogs typically present with multiple and various ocular abnormalities." These may include cataract, bilateral vitreal degeneration, macrophthalmos, spherophakia, retinal detachment, uveitis and secondary glaucoma.

Breed: Old English Sheepdog (Dog) (VBO_0200969).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
COL11A1 collagen type XI alpha 1 chain Canis lupus familiaris 6 NC_051810.1 (47763689..47960683) COL11A1 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 Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1657 Old English Sheepdog (Dog) Multiocular defect COL11A1 missense Naturally occurring variant CanFam3.1 6 g.47611886T>C c.1775T>C p.(F1592S) 2023 38153936
Download table as CSV

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002811-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2023 Stanbury, K., Stavinohova, R., Pettitt, L., Dixon, C., Schofield, E.C., Mclaughlin, B., Pettinen, I., Lohi, H., Ricketts, S.L., Oliver, J.A., Mellersh, C.S. :
Multiocular defect in the Old English Sheepdog: A canine form of Stickler syndrome type II associated with a missense variant in the collagen-type gene COL11A1. PLoS One 18:e0295851, 2023. Pubmed reference: 38153936. DOI: 10.1371/journal.pone.0295851.

Edit History


  • Created by Imke Tammen2 on 14 Jan 2024
  • Changed by Imke Tammen2 on 14 Jan 2024