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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.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 9 |
| Mutation | c.1572+5G>A |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
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.
Clinical features
Affected puppies are born with damaged, dysfunctional kidneys and die within days from kidney or respiratory failure.
Additional information
References
Pubmed ID: 30235266
Year published: 2018
Omia ID: 2173
Omia variant ID: