Blood Group AB

Blood Group AB, blood types A, AB, B and the alleles A, aAB, and b in the cat   Phenotypes and biochemistry: The major blood group in the cat is the AB group, responsible for three blood serotypes: Blood type A: the most common, frequency of 73-99.7% depending on the breed and the region Blood…

Factor VII Deficiency

Factor VII Deficiency   Gene: F7 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…

Leber congenital amaurosis

Leber congenital amaurosis (Congenital night blindness)   Gene: RPE65 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…

Gangliosidosis, GM2, Type II (Sandhoff Disease)

Gangliosidosis, GM2, Type II (Sandhoff Disease)   Gene: HEXB 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…

Gangliosidosis, GM2, Type I (Tay Sachs)

Gangliosidosis, GM2, Type I (Tay Sachs)   Gene: HEXA 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…

Amelogenesis imperfecta

Amelogenesis imperfecta   Gene: ENAM 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…

Mucopolysaccharidosis IIIA, MPSIIIA

Mucopolysaccharidosis IIIa, MPSIIIA   Gene: SGSH 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…

Pyruvate Dehydrogenase Phosphatase Deficiency

Pyruvate Dehydrogenase Phosphatase Deficiency   Gene: PDP1 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…

May-Hegglin Anomaly

May-Hegglin Anomaly   Gene: MYH9 Transmission: Autosomal dominant (not confirmed) 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…

Mucopolysaccharidosis VI, MPSVI

Mucopolysaccharidosis VI, MPSVI   Gene: ARSB 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…