Skeletal Dysplasia (SD3) – Vizsla
Kodas: H990
Short description
Skeletal Dysplasia (SD) is a developmental disorder that results in disproportionate dwarfism.
General information
Skeletal Dysplasia (SD) is a developmental disorder that results in disproportionate dwarfism. This form of SD, Skeletal Dysplasia 3 (SD3), occurs in the Vizsla, and is caused by a recessive mutation to the gene PCYT1A.
Specifications
| Breeds | |
|---|---|
| Gene | PCYT1A |
| Chromosome | 33 |
| Mutation | c.673T>C |
| Organ | Skeletal system |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | SD3 |
Clinical features
Dwarfism in affected puppies becomes apparent around the age of 3 to 5 weeks. Dogs with SD3 are shorter than littermates, with bowed limbs and knobbly joints. Forelimbs are more affected than hind limbs, and they maintain a wide stance with their forelimbs. This dwarfism makes affected adults shorter than the breed standard for Vizslas.
References
Pubmed ID: 36553621
Year published: 2022
Omia ID: 2606
Omia variant ID:
Turnaround information
- 10 working days