Macular Corneal Dystrophy Gene: CHST6 Transmission: Autosomal recessive For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals that have only…
Burmese Head Defect (BHD) Gene: ALX1 Transmission: Autosomal, co-dominant Animals with one copy of the mutation (carrier animals) will have the head defect phenotype. Animals with two copies of the mutation will display a severe phenotype that is not compatible with life. A carrier animal, mated to a normal animal, will pass on the mutation…
Deafness and Vestibular Dysfunction (PTPRQ-linked) Gene: PTPRQ Transmission: Autosomal recessive For an autosomal recessive genetic disease, an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals that…
Copper toxicity, Wilson’s disease (ATP7B-related) Gene: ATP7B Transmission: Autosomal recessive For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals that…
Polycystic Kidney Disease Gene: PKD1 Transmission: Autosomal dominant For an autosomal dominant genetic disease, an animal must have at least one copy of the mutation in question to be at risk of developing the disease. Animals with two copies of the mutation generally have more severe symptoms and an earlier onset of the disease…
Dilated Cardiomyopathy (PLN related) Gene: PLN Transmission : Autosomal, dominant, with incomplete penetration For an autosomal dominant genetic disease, an animal must have at least one copy of the mutation in question to be at risk of developing the disease. Animals with two copies of the mutation generally have more severe symptoms and an…
Fragile foal syndrome, FFS (Kyphoscoliotic Ehlers-Danlos syndrome) Gene: PLOD1 Transmission: Autosomal recessive For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals…
Immune-mediated myositis, IMM Gene: MYH1 Transmission: Autosomal dominant, variable expression For an autosomal dominant genetic disease, an animal must have at least one copy of the mutation in question to be at risk of developing the disease. Animals with two copies of the mutation generally have more severe symptoms and an earlier onset of…
Ocular Squamous Cell Carcinoma, SCC Gene: DDB2 Transmission: Autosomal recessive For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals that have…
Spongy Degeneration with Cerebellar Ataxia, SDCA2 Gene: ATP1B2 Transmission : Autosomal recessive For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals…
