PRA-rcd4, gène C17H2orf71

  • Modèle: PRA-rcd4
  • Disponibilité: En stock

  • 65,00$ CAD

  • 3 ou plus 60,00$ CAD
  • 5 ou plus 55,00$ CAD

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Autres noms: Atrophie progressive de la rétine, dysplasie cône-batonnet 4
Gène affecté : C17H2orf71 (PCARE)
Transmission : Autosomal Recessif
Mutation : CanFam3.1    17    g.22907394_22907395insG    c.3149_3150insC    p.(C1051Vfs*90)    

Lien OMIA:  001575-9615 

Races appropriées pour les tests : 
Setter Anglais, Setter Gordon, Setter, Setter Irlandais, Caniche nain, Old Danish Pointing Dog, Caniche Standard,Terrier tibétain, Spitz japonais

Symptômes:

Références:
Djajadiningrat-Laanen SC, Boevé MH, Stades FC, van Oost BA. Familial non-rcd1 generalised retinal degeneration in Irish setters. J Small Anim Pract. 2003 Mar;44(3):113-6. [PubMed: 12653325]

Downs LM, Bell JS, Freeman J, Hartley C, Hayward LJ, Mellersh CS. Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71. Anim Genet. 2013 Apr;44(2):169-77. [PubMed: 22686255]

Downs LM, Hitti R, Pregnolato S, Mellersh CS. Genetic screening for PRA-associated mutations in multiple dog breeds shows that PRA is heterogeneous within and between breeds. Vet Ophthalmol. 2014 Mar;17(2):126-30. [PubMed: 24255994]

Miyadera K, Acland GM, Aguirre GD. Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome. 2012 Feb; 23(1-2):40-61. [PubMed: 22065099]

 

Balises: Setter Anglais, Setter Gordon, Setter, Setter Irlandais, Caniche nain, Old Danish Pointing Dog, Caniche Standard, Terrier tibétain, Spitz japonais