Ichthyosis Golden Retriever Type 2

Ichthyosis Golden Retriever Type 2

¥16,600
  • TEST OVERVIEW:
    Ichthyosis (Golden Retriever Type 2) is a genetic skin disorder that affects Golden Retrievers and is characterized by the development of dry, scaly, and thickened skin. Diagnosis: Veterinarians typically diagnose Ichthyosis through a combination of clinical signs, breed history (as it is known to affect Golden Retrievers), and possibly skin biopsies for confirmation.
  • カテゴリー:
    皮膚科系疾患 - 皮膚に関連する疾患
  • static-content..gene:
    ABHD5
  • Variant Detected:
    chr23:2274932-2274945 (canFam4): 14 bp deletion (GACTTCAACCAGAA)
  • Severity:
    Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.
  • MODE OF INHERITANCE:
    Autosomal Recessive with Incomplete Penetrance
  • RESEARCH CITATION(S):
    Guaguere E, Thomas A, Grall, A, Bourrat E, Lagoutte L, Degorce-Rubiales F, Hitte C, Bensignor E, Fontaine J, Pin D, Queney G, Andre C. Autosomal recessive ichthyosis in golden retriever dogs: distribution and frequency of the PNPLA1 mutant allele in different populations. In Torres SMF, Fran LA, Hargis AM. Ames (eds), Advances in Veterinary Dermatology, 7th ed. John Wiley & Sons Ltd, 2013. Kiener S, Wiener D, Hopke K, Diesel A, Jagannathan V, Mauldin E, Casal M, Leeb T. ABHD5 frameshift deletion in Golden Retrievers with ichthyosis, G3 Genes|Genomes|Genetics, 2021 [PubMed: 34791225]

Ichthyosis Golden Retriever Type 2

¥16,600

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