Ataxia, spinocerebellar Gene: SLC12A6 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…
Focal Non-Epidermolytic Palmoplantar Keratoderma, FNEPPK Gene: KRT16 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…
Lethal Acrodermatitis (LAD) (Bull Terrier) Gene: MKLN1 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…
Microphthalmia, Congenital Eye Disease (Wheaton) Gene: RBP4 Transmission: Autosomal recessive; maternal inheritance 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.…
Dilated Cardiomyopathy risk factor, TTN Gene: TTN 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…
Congenital Myasthenic Syndrome (Retriever type) Gene: COLQ 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…
Glaucoma, Primary Open Angle, ADAMTS17 related Gene: ADAMTS17 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…
Neuroaxonal Dystrophy, NAD (Rottweiler type) Gene: VPS11 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…
Geleophysic dysplasia, Musladin-Lueke Syndrome (MLS) (Chinese Beagle Syndrome) Gene: ADAMTSL2 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…
Nemaline Myopathy Gene: NEB 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…
