Multiple congenital ocular anomalies (MCOA), PMEL-related Gene: PMEL Transmission: Autosomal, co-dominant (incomplete penetrance) 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…
Myotonia, congenital, CLCN1-related Gene: CLCN1 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…
Syndactyly (mulefoot), LRP4-related Gene: LRP4 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 have…
Scurs, type 2, (possible abdominal hernia), TWIST1-related Gene: TWIST1 Transmission: Autosomal, dominant (variable penetration) 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…
Epidermolysis bullosa, junctional, ITGA6-related Gene: ITGA6 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…
Spongiform encephalopathy (BSE), susceptibility Gene: PRNP Transmission: Unknown Mutation: Substitution, PRNP gene; c.631 G>A, p.(Glu211Lys), chromosome 13. Breed: Cattle, ruminants, horse, wild mammals, humans. Medical system: Neurological Age of onset of symptoms: Long incubation time (2.5 – 8 years). Spongiform encephalopathy, also known as Bovine Spongiform Encephalitis (BSE) or Mad Cow disease, is a type of…
Lymphocyte intestinal retention defect, ITGB7-related Gene: ITGB7 Transmission: Autosomal, recessive (probably) 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…
Convulsions and ataxia (cerebellar abiotrophy), CACN1A1-related Gene: CACN1A1 Transmission: Autosomal, dominant (incomplete penetration) The animal only has to have one copy of the mutation 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 animals with just…
Chondrodysplasia, EVC2-related Gene: EVC2 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…
PCYT2 deficiency Gene: PCYT2 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…
