Leukocyte adhesion deficiency (LAD), type 1 (ITGB2-linked) Gene: ITGB2 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. …
Screwtail, Curly Tail (DVL2-related) Gene: DVL2 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…
Dental, skeletal, retinal atrophy, DSRA (MIA3-related) Gene: MIA3 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…
Short tail, kinked (Japanese Bobtail) Gene: HES7 Transmission: Autosomal dominant The animal only has to have one copy of the mutation to be at risk of developing hypertrophic cardiomyopathy. Animals with two copies of the mutation generally have more severe symptoms and an earlier onset of the disease than animals with just one copy…
Short tail (Bobtail, brachyury) Gene: TBXT 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 the…
Short tail (Bobtail, Brachyury) Gene: TBXT Transmission: Autosomal dominant The animal only has to have one copy of the mutation to be at risk of developing hypertrophic cardiomyopathy. Animals with two copies of the mutation generally have more severe symptoms and an earlier onset of the disease than animals with just one copy of…
Double-outlet right ventricle (DORV), NUMB-related Gene: NUMB Transmission: Autosomal dominant Mutation: Substitution, NUMB gene, MYH1 gene; c.416 C>T, p.(T139M) Medical systems: Cardiac Breeds: Age of onset of symptoms: From birth to 5 weeks. Double outlet right ventricle (DORV) disease is a congenital cardiac anomaly characterized by the implantation of the two great arteries of…
Dilute coat color with neurological defects (Lavender Foal Syndrome, LFS) Gene: MYO5A 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…
Immunodeficiency syndrome, SLC5A3-related Gene: SLC5A3 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…
Auditory-pigmentary syndrome, PAX3 -related Gene: PAX3 Transmission: Autosomal, dominant (incomplete) The animal only has to have one copy of the mutation to be at risk of developing hypertrophic cardiomyopathy. Animals with two copies of the mutation generally have more severe symptoms and an earlier onset of the disease than animals with just one copy of…
