Affected Gene: RBP4
Inheritance: Autosomal recessive, maternal inheritance
*** Kaukonen et al. (2018): “The four affected litters are related in a single pedigree, with an inheritance pattern suggesting an autosomal recessive mode of inheritance” (Kaukonen et al., 2018). However, the disease "only manifests if both mother and offspring carry a homozygous mutation", i.e. it is a "recessive RBP4 defect with maternal inheritance" (Kaukonen et al. , 2018)Mutation: CanFam3.1 28 g.7830265_7830267del c.90_92del (DelGAA)
OMIA link: 002151-9615
Appropriate breeds for testing : Soft Coated Wheaten Terrier
References:
Kaukonen M, Woods S, Ahonen S, Lemberg S, Hellman M, Hytonen MK, Permi P, Glaser T, Hannes L. Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease. Cell Reports. 2019 May 29, 23 (2643 – 2652). doi.org/10.1016/j.celrep.2018.04.118
Microphthalmia, RBP4 Gene- Wheaten
5 tests et + 55$ch.
Délais de traitement
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