Episodic Falling Syndrome Gene: BCAN 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…
Cleft Palate with Syndactyly (CPS) Gene: ADAMTS20 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…
Retinal atrophy, Progressive rod-cone degeneration (PRCD) Gene: PRCD 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…
Centronuclear Myopathy, CNM Gene: HACD1 (also known as PTPLA) 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. …
Skeletal Dysplasia 2, SD2 (Disproportionate dwarfism) Gene: COL11A2 (Collagen 11A2) Transmission: Autosomal recessive, incomplete 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…
Spongiform Leukoencephalomyelopathy Gene : CYTB Transmission : Mitochondrial DNA Mitochondrial DNA is inherited from the mother. An affected mother transmits the disease to all of her descendants. An affected father does not transmit the disease. Mutation : Substitution, mitochondrial gene CYTB; c.14474 G>A, p.(V98M) Medical systems: Neurological, neuromuscular Breeds : Australian Cattle Dog, Shetland Sheepdog Age of onset of…
Spinocerebellar Ataxia, early onset, with myokymia and seizures (SCA) Gene: KCNJ10 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…
Spinal Dysraphism (SD) Gene: NKX2-8 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…
Alopecia or Follicular Dysplasia, D Locus (Dilution) Gene: MLPH (Melanophilin) 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…
Degenerative Myelopathy (DM) Gene: SOD1 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…
