Retinal atrophy, progressive (CNGA1 related) Gene: CNGA1 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…
Glycogen Storage Disease VII, Phosphofructokinase (PFK) Deficiency Gene: PFKM 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…
Cataracts (hereditary) Gene: HSF4 Transmission: Autosomal recessive / Autosomal dominant 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…
Epilepsy, myoclonus of Lafora Gene: NHLRC1 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…
Severe Combined Immunodeficiency, SCID Gene: PRKDC 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…
Intestinal cobalamin (Vitamin B12) malabsorption, CUBN related (Imerslund-Grasbeck Syndrome, megaloblastic anemia) Gene: CUBN 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…
Macrothrombocytopenia, congenital Gene: TUBB1 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 one copy…
Dilated Cardiomyopathy risk factor, PDK4 Gene: PDK4 Transmission: Autosomal dominant, with incomplete penetration (complex genetics) 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…
Ectodermal Dysplasia (Chesapeake Bay Retriever type) Gene: PKP1 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…
Retinal atrophy, progressive, Type I (CNGB1 related) Gene: CNGB1 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…
