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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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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 9 |
| Mutation | c.1572+5G>A |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
Informations générales
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.
Caractéristiques cliniques
Affected puppies are born with damaged, dysfunctional kidneys and die within days from kidney or respiratory failure.
Additional Information
Références
Pubmed ID: 30235266
Year published: 2018
Omia ID: 2173
Omia variant ID: 1034