Oculocutanious albinism Gene: HPS5 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…
Fibrodysplasia ossificans Gene: ACVR1 Transmission: Autosomal, probably 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 of the…
Methemoglobinemia, hereditary Gene: CYB5R3 Transmission: Autosomal, probably 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…
Hypertrophic Cardiomyopathy (Domestic cat type) Gene: MYH7 Transmission: Autosomal, probably 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…
Wilson Disease Gene: ATP7B Transmission: Autosomal recessive or dominant with incomplete penetration. Mutations: Mutation 1 : Substitution, ATP7B gene; c.3890 C>G, p.(T1297R), Chr.A1 Mutation 2 : Substitution, ATP7B gene; p.(P550L), Chr.A1 Mutation 3 : Substitution, ATP7B gene; c.3670 T>A, p.(W1224R), Chr.A1 Medical system: Liver, metabolic Breeds: Domestic cat Age of onset of symptoms: 9…
Cystinuria, type I-B Gene: SLC7A9 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…
Megaoesophagus (German Shepherd) Gene: MCHR2 Transmission: Autosomal, sex influenced Mutation: Deletion, MCHR2 gene; deletion of 33 nt VNTR sequence within intron 1 of MCHR2 Medical system: Digestive Breeds: Age of onset of symptoms: By 4 weeks, after weening. Megaoesophagus is a relatively common congenital anomalie seen in dogs that can have both genetic and…
Congenital eye malformation (Golden Retriever) Gene: SIX6 Transmission: Autosomal dominant, variable penetration 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…
Alexander Disease Gene: GFAP 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 than…
Ichthyosis (type 2, Golden Retriever) Gene: ABHD5 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…
