Neuroaxonal Dystrophy, NAD (Spanish Water Dog type)

Neuroaxonal Dystrophy, NAD (Spanish Water Dog type)   Gene: TECPR2 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. …

Osteogenesis Imperfecta, OI (Beagle type)

Osteogenesis Imperfecta, OI (Beagle type)   Gene: COL1A2 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…

Osteogenesis Imperfecta, OI (Dachshund type)

Osteogenesis Imperfecta, OI (Dachshund type)   Gene: SERPINH1 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…

Osteogenesis Imperfecta, OI (Golden Retriever type)

Osteogenesis Imperfecta, OI (Golden Retriever type)   Gene: COL1A1 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…

Persistent Müllerian Duct Syndrome, PMDS

Persistent Müllerian Duct Syndrome, PMDS   Gene: AMHR2 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…

Sensory Neuropathy (SN)

Sensory Neuropathy (SN)   Gene: FAM134B 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…

Von Willebrand Disease, type 3 (vWD 3)

Von Willebrand Disease, type3 (vWD 3)   Gene: VWF 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…

Von Willebrand Disease, type 2 (vWD 2)

Von Willebrand Disease, type 2 (vWD 2)   Gene: VWF 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…

Primary Hyperoxaluria

Primary Hyperoxaluria   Gene: AGXT 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, Rod-cone dysplasia 3 (RCD3)

Retinal atrophy, Rod-cone dysplasia 3 (RCD3)   Gene: PDE6A 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…