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H636

Hypophosphatasia is a severe skeletal disorder which affects the Karelian Bear Dog, and causes poor bone structure and retarded growth.

Working days 10

Specifiche

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Also known as

Year Published

Informazioni generali

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.

Caratteristiche cliniche

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.

Informazioni aggiuntive

Riferimenti

Pubmed ID: 30700765

Omia ID: 2162

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