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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 | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
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
Omia ID: 2173