Acral Mutilation Syndrome (AMS) Gene: GDNF-AS 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…
Chondrodystrophy, CDDY/ Intervertebral Disc Disease, IVDD (Hansen’s Type 1) Gene: FGF4 retrogene Transmission: Autosomal dominant for Intervertebral Disc Disease (IVDD), autosomal semi-dominant for Chondrodystrophy (CDDY), or short legs. Note that the genetics of these phenotypes is complex, and although the FGF4 retrogene is known to be implicated, it is not presumed to be the…
Craniomandibular Osteopathy, CMO Gene: SLC37A2 Transmission: Autosomal dominant, incomplete penetrance (complex genetics) Mutations: Terrier mutation: Substitution (splicing error), SLC37A2 gene; c.1332 C>T, exon15 Basset Hound mutation: Substitution (splicing error), SLC37A2 gene; c.1446+1 G>A Medical system: Skeletal Breeds: American Staffordshire Terrier/Amstaff, Australian Shepherd, Basset Hound, Beagle, Border Collie, Boston Terrier, Boxer, Cairn Terrier, Chihuahua, Coton…
Neuroaxonal Dystrophy, NAD (Papillon type) Gene: PLA2G6 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…
Appaloosa blindness, Leopard complex spotting, LP Gene: TRPM1 Transmission: Autosomal dominant for spots 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…
Mucopolysaccharidosis VI (MPS VI) 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…
Mannosidosis, alpha Gene: LAMAN 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 Kinase Deficiency (PKLR) Gene: PKLR 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…
Spinal Muscular Atrophy Gene: LIX1 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…
GM2 Gangliosidosis (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 have only…
