kr667,40 kr551,57 ekskl. mva
Hereditary Cataract (HC, HSF4-1) are defined as the clouding of the lens of the eye.
10 Arbeidsdager
Fra kr 69,- i frakt og administrasjon per bestilling (inkl. mva)
Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 5 |
| Mutation | c.971del |
| Mode of Inheritance | Autosomal dominant med ufullstendig penetrans |
| Organ | |
| Specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
| Also known as | PHC |
Generell informasjon
Hereditary Cataract (HC,
HSF4-1) are defined as the clouding of the lens of the eye. Cataracts impair vision and, if progressive, may lead to total blindness because the lens normally focuses light on the retina to enable vision. Cataracts can develop in one eye or in both eyes due to the aging process, underlying diseases, injury or a genetic defect.
In the Australian Shepherd, an autosomal dominant mutation with incomplete penetrance to the HSF4 gene is associated with HC. This variant is known as HSF4-1.
Kliniske egenskaper
Katarakt kan starte etter 2 år (sen start). Det varierer hvor raskt katarakten utvikler seg og hvor nedsatt synet blir.
Tilleggsinformasjon
Referanser
Pubmed ID: 16939467
Year published: 2006
Omia ID: 1758
Omia variant ID: