Xanthinuria, type II Gene: MOCOS 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…
Von Willebrand Disease, type 1 (vWD 1) Gene: VWF Transmission: Autosomal Mutation: Substitution, VWF gene; c.7437 G>A; p.(S2479S, fs) Medical system: Blood Breeds: Age of onset of symptoms: Following a bleeding injury, regardless of age (average age of diagnosis = 4 years) Von Willebrand factor (vWF) is a blood glycoprotein that is involved in…
Van den Ende-Gupta Syndrome (VDEGS) Gene: SCARF2 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…
Trapped Neutrophil Syndrome (TNS) Gene: VPS13B 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…
Thrombopathia Gene: RASGPRP2 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…
Retinal atrophy, generalized (Stargardt Disease) Gene: ABCA4 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…
Severe Combined Immunodeficiency Gene: RAG1 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…
Mucopolysaccharidosis IIB, MPSIIB Gene: NAGLU 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…
Retinal atrophy, progressive (MERTK related) Gene: MERTK 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…
Retinal atrophy, progressive (IMPG2 related) Gene: IMPG2 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…
