Retinal atrophy, progressive (GR_PRA1) Gene: SLC4A3 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 (GR_PRA2) Gene: TTC8 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…
X-linked tremors (Shaking Pup) Gene: PLP1 Transmission: X-linked inheritance For a chromosome X-linked recessive genetic disease, a male animal must have one copy of the mutation in question to be at risk of developing the disease. All affected males will pass on the mutation to all of its female progeny. A female animal must have…
Spinocerebellar Ataxia, late-onset (LOA) Gene : CAPN1 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…
Sensory Ataxic Neuropathy Gene: mito tRNAtyr, MTTY 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: Deletion, MTTY gene (tRNATyr); c.5304 del.A Medical system: Neurological Breed: Golden Retriever, Goldendoodle Age of onset of…
Lysosomal Storage Disease (LSD) (Lagotto Romagnolo) Gene: ATG4D 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…
Multi-drug Resistance (MDR1) Gene: ABCB1 Transmission: Autosomal dominant, variable penetrance Mutation: Deletion, ABCB1gene; c.259_262 del.4bp, p.(D77A fs STOP 16), exon4 Medical system: Pharmacogenetics Breeds: Alaskan Malamute, American Staffordshire Terrier/Amstaff, Australian Cattle Dog, Australian Shepherd, Basset Hound, Beagle, Berger Picard, Border Collie, Boxer, Chihuahua, Chow Chow, Collie, Collie – Rough, Collie – Smooth, Doberman Pinscher,…
Retinal atrophy, cone-rod dystrophy 4 (CRD4/Cord1) Gene: RPGRIP1 Transmission: Autosomal recessive, with 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…
Protein Losing Nephropathy (PLN) Gene: NPHS1 Transmission: Complex: Autosomal, recessive or autosomal dominant with variable penetration Mutation: Substitution, NPHS1 gene; c.3067 G>A, exon22 Medical system: Renal Breed: Airedale Terrier, Danish Swedish Farmdog, Schapendoes, Soft-coated Wheaten Terrier Age of onset of symptoms: 4 to 8 years. Protein Losing Nephropathy is an adult onset progressive kidney disease…
Oculoskeletal Dysplasia 1 (OSD1) Gene: COL9A3 Transmission: Autosomal recessive for dwarfism, dominant with variable penetration for eye problems. 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…
