GENETIC DISEASE TESTING
FOR DOGS

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AI – Amelogenesis Imperfecta – Akita

Other names: Familial enamel hypoplasia (FEH)
Affected gene: ACPT
Inheritance: Autosomal recessive
Mutation: CanFam3.1  chr1  g.106051997dupC  c.1189dupG  p.(A397Gfs)

Luxation Cristallin (PLL, Adamts17)

En anglais: Lens luxationGènes affectés : ADAMTS17

Transmission: Autosomal dominant incomplet

Mutation: CanFam3.1 3 g.40782144G>A c.1473+1G>ALien OMIA: 000588-9615

Congenital Hypothyroidism with Goiter (Terrier Type) – TPO

Affected gene: TPO
Inheritance: Autosomal recessive
Mutation: CanFam3.1 chr17 g.784624C>T, c.331C>T
OMIA link: 000536-9615

PRA-Basenji (SAG Gene)

Inheritance: Autosomal recessive
Mutation: CanFam3.1 chr25 g.44843440T>C, c.1216T>C
OMIA link: 001876-9615
Affected gene: SAG

Syndrome De Fanconi (Basenji, Gène FAN1)

Transmission: Autosomal Recessive

Mutation: CanFam3.1 chr3:38013703-38014019: 317 bp deletion / Délétion de 317 pb à partir du 2e nucléotide de l'exon 14 et s'étendent dans la région 3' non traduite de FAN1.

Gènes affectés: FAN1

GENETIC DISEASE TESTING FOR DOGS