Benign Familial Juvenile Epilepsy (BFJE, Lagotto Romagnolo) Gene: LGI2 Transmission: Autosomal dominant (incomplete penetrance) 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…
Exercise-Induced Collapse (EIC) Gene: DNM1 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…
Hyperuricosuria (HUU) Gene: SLC2A9 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…
Hereditary Nasal Parakeratosis (HNPK) Gene: SUV39H2 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…
Gangliosidosis, GM1 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…
Ichthyosis (type Golden Retriever) Gene: PNPLA1 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…
Dry Eye Curly Coat Syndrome (Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis, CKSID) Gene: FAM83H 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…
Cleft Palate (CP1) Gene: DLX6 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…
Collie Eye Anomaly (CEA) Gene: NHEJ1 Transmission: Autosomal recessive (variable penetration) 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…
Cerebellar Ataxia (juvenile onset) (Canine hereditary ataxia) Gene: RAB24 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…
