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Hypophosphatasia is a severe skeletal disorder which affects the Karelian Bear Dog, and causes poor bone structure and retarded growth.
10 working days
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 2 |
| Mutation | c.1301T>G |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | HPP |
Informations générales
Hypophosphatasia is a severe skeletal disorder which affects the Karelian Bear Dog, and causes poor bone structure and retarded growth. It is caused by a recessive mutation to the gene ALPL.
Caractéristiques cliniques
Affected puppies start falling behind in growth with respect to their littermates by the age of 7 to 10 weeks. They also have difficulty moving, with muscle weakness, a crouched stance and deformed bones and joints. The affected dog may die within the first 10 weeks of life; if not, euthanasia on humane grounds may be necessary due to the severity of symptoms.
Additional Information
Références
Pubmed ID: 30700765
Year published: 2019
Omia ID: 2162
Omia variant ID: 1021