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Hypophosphatasia ( HPP )
Test number: 8389
Gene: HPP
Price: £ 48.00 (including VAT)
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Breed
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Karelian Bear Dog
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The Disease |
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Canine hypophosphatasia ( HPP ) is a severe inherited skeletal disorder affecting the Karelian Bear Dog ( KBD ). Hypophosphatasia is a metabolic bone disease characterised by impairment in skeletal mineralization which leads to variable presentation of skeletal hypomineralization, growth retardation, seizures and movement difficulties.
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Description |
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Hypophosphatasia (HPP) is a metabolic bone disease characterized by defective skeletal mineralization which has been described in the breed Karelian Bear Dog as well as in humans. For the Karelian Bear Dog, a variant in the alkaline phosphatase gene ALPL has been found to be associated with HPP. The age of onset of HPP in Karelian Bear Dogs varies between 2 to 10 weeks. First symptoms are growth retardation, crouched stance, seizures, generalized muscle weakness and movement difficulties. Due to the variant in the ALPL gene, a defective skeletal mineralization together with skeletal ossifications could be observed. Typical pathological findings are hyperextension of the distal joints, hourglass-shaped diaphysis as well as poorly mineralized epiphyses, carpal and tarsal bones. Moreover, the serum analysis of affected puppies revealed elevated total serum protein, albumin and urea levels and an increased level of excreted PEA (phosphatase substrate phosphoethanolamine) could be measured in the urine. The puppies usually die a few weeks after the first symptoms or are euthanized due to severity of the clinical signs.
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Trait of Inheritance |
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Autosomal recessive mode of inheritance
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Inheritance : AUTOSOMAL
RECESSIVE
trait
Sire
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Dam
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Offspring
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clear
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clear
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100% clear
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clear
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carrier
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50% clear + 50%
carriers
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clear
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affected
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100% carriers
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carrier
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clear
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50% clear + 50%
carriers
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carrier
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carrier
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25% clear + 25% affected
+ 50% carriers
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carrier
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affected
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50% carriers + 50%
affected
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affected
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clear
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100% carriers
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affected
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carrier
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50% carriers + 50%
affected
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affected
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affected
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100% affected
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Clear
Genotype: N / N [ Homozygous normal ]
The dog is noncarrier of the mutant gene.
It is very unlikely that the dog will develop Hypophosphatasia ( HPP ). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.
Carrier
Genotype: N / HPP [ Heterozygous ]
The dog carries one copy of the mutant gene and one
copy of the normal gene.
It is very unlikely that the dog will develop Hypophosphatasia ( HPP ) but since it carries the mutant gene, it can pass it on to its offspring with the probability of 50%. Carriers should only be bred to clear dogs. Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)
Affected
Genotype: HPP / HPP [ Homozygous mutant ]
The dog carries two copies of the mutant gene and
therefore it will pass the mutant gene to its entire offspring.
The dog is likely to develop Hypophosphatasia ( HPP ) and will pass the mutant gene to its entire offspring
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Price
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£ 48.00 (including VAT)
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