Diffuse Cystic Renal Dysplasia and Hepatic Fibrosis
Kodas: H952
Įdėjimo į krepšelį mygtukas pasirodys po to, kai aukščiau pasirinksite reikšmę
Short description
In the Norwich Terrier, a recessive mutation to the gene INPP5E causes a severe kidney disorder known as diffuse cystic renal dysplasia with hepatic fibrosis.
General information
In the Norwich Terrier, a recessive mutation to the gene INPP5E causes a severe kidney disorder known as diffuse cystic renal dysplasia with hepatic fibrosis. The disease is lethal to affected puppies.
Specifications
| Breeds | |
|---|---|
| Gene | INPP5E |
| Chromosome | 9 |
| Mutation | c.1572+5G>A |
| Organ | Urinary system |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Affected puppies are born with damaged, dysfunctional kidneys and die within days from kidney or respiratory failure.
References
Pubmed ID: 30235266
Year published: 2018
Omia ID: 2173
Omia variant ID:
Turnaround information
- 10 working days