GM1 Gangliosidose (Siamese type) Gene: GLB1 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…
Cystinuria, type I-A Gene: SLC3A1 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…
Retinal atrophy, progressive (Late-onset blindness, PRA-rdAc) Gene: CEP290 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…
Retinal atrophy, progressive (Early-onset blindness, PRA-Rdy) Gene: CRX Transmission: Autosomal dominant (incomplete) For a genetic disease that is autosomal dominant, the animal only has to have 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…
Glycogen Storage Disease Type IV (Norwegian Forest Cat) Gene: GBE1 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 1 (PKD1) Gene: PKD1 Transmission: Autosomal dominant For a genetic disease that is autosomal dominant, the animal only has to have one copy of the mutation to be at risk of developing polycyctic kidney disease. Animals with two copies of the mutation generally have more severe symptoms and an earlier onset of the…
Hypertrophic Cardiomyopathy (Maine Coon, Ragdoll types) Gene: MYBPC3 Transmission: Autosomal dominant The animal only has to have one copy of the mutation to be at risk of developing hypertrophic cardiomyopathy. Animals with two copies of the mutation generally have more severe symptoms and an earlier onset of the disease than animals with just one copy…
Malignant hyperthermia, Quarter Horse Gene: RYR1 Transmission: 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 only…
Polysaccharide Storage Myopathy 1, PSSM1 Gene: GYS1 Transmission: Autosomal dominant (incomplete) 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…
Hereditary junctional epidermolysis bullosa, HJEB – Belgian Gene: LAMC2 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…
