Pyruvate Kinase Deficiency Gene: PKLR 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…
Neuronal Ceroid Lipofuscinosis 8, NCL8 Gene: CLN8 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…
Neuronal Ceroid Lipofuscinosis 1, NCL1 Gene: PPT1 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…
Obesity (Labrador Retriever) Gene: POMC Transmission: Autosomal dominant (variable penetration); multifactorial 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…
Oculoskeletal Dysplasia 2 (OSD2) Gene: COL9A2 Transmission: Autosomal recessive for dwarfism; autosomal dominant with variable penetration for eye problems. 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…
Neuronal Ceroid Lipofuscinosis 5, NCL5 Gene: CLN5 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…
Polyneuropathy 2 (LPN2) Gene: GJA9 Transmission: Autosomal Dominant (variable expression; i.e. complexe inheritance) 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…
Paroxysmal Dyskinesia Gene: PIGN 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…
Muscular Dystrophy, Duchenne type Gene: DMD (Dystrophin) Transmission: X-linked recessive For an X-chromosome linked recessive genetic disease, a male must have a copy of the mutation in question to be at risk of developing the disease. All affected males transmit the mutation to all females in their progeny. A female must have two copies…
Retinal atrophy, Rod-cone dysplasia (RCD4) Gene: PCARE 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…
