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The enzyme Phosphate Cytidylyltransferase 2 (PCYT2) is involved in the metabolism of the cell, assisting in the creation of molecules essential for the functioning of nerves.
10 Arbeidsdager
Fra kr 58,- i frakt og administrasjon per bestilling (inkl. mva)
Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 9 |
| Mutation | c.4A>G |
| Mode of Inheritance | Automatisk resessiv |
| Organ | |
| Specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
Generell informasjon
The enzyme Phosphate Cytidylyltransferase 2 (PCYT2) is involved in the metabolism of the cell, assisting in the creation of molecules essential for the functioning of nerves. In the Saarloos Wolfdog, a recessive mutation to the gene for PCYT2 is known to result in degenerating eyesight, loss of coordination and other neurological defects.
Kliniske egenskaper
The first sign of PCYT2 deficiency in affected dogs is a progressive loss of vision consistent with Progressive Retinal Atrophy (PRA), which becomes apparent between 1 and 4 years of age. Subsequently, the disease can result in neurological and muscular symptoms like ataxia (loss of coordination), abnormal gait, weakness of the hind limbs, tremors, epileptic seizures and behavioural abnormalities such as sudden aggression towards the owner.
Tilleggsinformasjon
Referanser
Pubmed ID: 38277988
Year published: 2024
Omia ID: 2728
Omia variant ID: