Neonatal Ataxia (Bandera’s, BNAt) Gene: GRM1 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…
Epidermolytic hyperkeratosis (ichthyosis) Gene: KRT10 Transmission: Autosomal Mutations: Norfolk Terrier mutation (recessive): Substitution (splicing error), KRT10 gene; c.1125+1 G>T, intron5 Chihuahua mutation (dominant): Substitution, KRT10 gene; c.437 G>A, p.(R146H) Breeds: Chihuahua, Lucas Terrier, Norfolk Terrier Age of onset of symptoms: From birth Ichthyosis refers to a family of skin diseases that disrupt normal skin structure…
Globoid Cell Leukodystrophy (Krabbe Disease) Gene: GALC 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…
Cardiomyopathy, Arrhythmic Right Ventricular (ARVC) Gene: STRN Transmission: Autosomal, dominant, variable penetration (complex genetics, 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…
Degenerative Myelopathy, modifying gene Gene: SP110 Transmission: Autosomal, dominant 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 the disease…
Deafness (associated with Dominant White) (W Locus) Gene: KIT Transmission: Autosomal, dominant (complete penetrance for whiteness, incomplete penetrance for deafness) 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 hypertrophic cardiomyopathy. Animals with two copies of the mutation…
Congenital Hypothyroidism with Goiter Gene: TPO 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…
Congenital Myasthenic Syndrome, CMS (Muscular dystrophy-dystroglycanopathy, limb-girdle) 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…
Polydactyly Gene: SHH, LMBR1 genes 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 hypertrophic cardiomyopathy. Animals with two copies of the mutation generally have more severe symptoms and an earlier onset of the disease…
Osteochondrodysplasia (Scottish Fold) Gene: TRPV4 Transmission: Autosomal dominant (variable penetration) 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 hypertrophic cardiomyopathy. Animals with two copies of the mutation generally have more severe symptoms and an earlier onset of…
