ArticleMammalian genome : official journal of the International Mammalian Genome Society2010
COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 61 citations in OpenAlex.
- Comparison of Presumed Geographic Retinal Dysplasia Between a Cavalier King Charles Spaniel and a Labrador Retriever.Clinical case reports · 2026Article
- Two genes, one culprit - a functional candidate validation of a SPATA7 deletion in dogs with day blindness/retinal degeneration.PLoS genetics · 2025Article
- Diagnostic Ophthalmology.The Canadian veterinary journal = La revue veterinaire canadienne · 2025Article
- Canine models of inherited retinal diseases: from neglect to well-recognized translational value.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Review
- GTPBP2 in-frame deletion in canine model with non-syndromic progressive retinal atrophy.Scientific reports · 2025Article
- Initial Genome-Wide Case-Control Study for Genetic Background of Retinal Dysplasia in Czechoslovakian Wolfdog.Veterinary sciences · 2025Article
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- Manifestations of systemic disease in the retina and fundus of cats and dogs.Frontiers in veterinary science · 2024Review
- Genotypic and allelic frequencies of progressive rod-cone degeneration and other main variants associated with progressive retinal atrophy in Italian dogs.Veterinary record open · 2023Article
- Ophthalmic Disease and Screening in Breeding Dogs.The Veterinary clinics of North America. Small animal practice · 2023Review
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- Retinal structural and microvascular abnormalities in retinal dysplasia imaged by OCT and OCT angiography.Veterinary ophthalmology · 2022Article
- A Splicing Mutation inInternational journal of molecular sciences · 2022Article
- Article
- Identification of a variant in NDP associated with X-linked retinal dysplasia in the English cocker spaniel dog.PloS one · 2021Article
- Focal/multifocal and geographic retinal dysplasia in the dog-In vivo retinal microanatomy analyses.Veterinary ophthalmology · 2020Article
- Article
- Current Understanding of the Genetics of Intervertebral Disc Degeneration.Frontiers in veterinary science · 2020Review
- AGenes · 2019Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
Oculoskeletal dysplasia segregates as an autosomal recessive trait in the Labrador retriever and Samoyed canine breeds, in which the causative loci have been termed drd1 and drd2, respectively. Affected dogs exhibit short-limbed dwarfism and severe ocular defects. The disease phenotype resembles human hereditary arthro-ophthalmopathies such as Stickler and Marshall syndromes, although these disorders are usually dominant. Linkage studies mapped drd1 to canine chromosome 24 and drd2 to canine chromosome 15. Positional candidate gene analysis then led to the identification of a 1-base insertional mutation in exon 1 of COL9A3 that cosegregates with drd1 and a 1,267-bp deletion mutation in the 5' end of COL9A2 that cosegregates with drd2. Both mutations affect the COL3 domain of the respective gene. Northern analysis showed that RNA expression of the respective genes was reduced in affected retinas. These models offer potential for studies such as protein-protein interactions between different members of the collagen gene family, regulation and expression of these genes in retina and cartilage, and even opportunities for gene therapy.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.