Myotubular Myopathy 1 (X-linked centronuclear myopathy) Gene: MTM1 Transmission: X-linked recessive For an X-linked recessive genetic disease, a male must have one copy of the mutation in question to be at risk of developing the disease. All affected males transmit the mutation to all the females of their offspring. A female must have two…
Myeloperoxidase Deficiency Gene: MPO 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…
Muscular Hypertrophy (double muscling) Gene: MSTN (myostatin) Transmission: Autosomal co-dominant Mutation: Deletion, MSTN gene; c.939_940 del. TG, p.(C313 STOP) Medical system: Muscular Breeds: Age of onset of symptoms: Variable, from birth to 23 months. Whippet Muscle Hypertrophy Syndrome is a genetic condition whose most striking clinical sign is the excessive size of a dog’s…
Muscular Dystrophy, Ullrich type Gene: COL6A1 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…
Lung Developmental Disease Gene: LAMP3 Transmission: Autosomal recessive (lethal) 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…
Limb-girdle Muscular Dystrophy, Type R6 Gene: SGCD Transmission: Autosomal recessive (probably) 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…
Ligneous Membranitis Gene : PLG 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…
Epilepsy, mitochondrial dysfunction, neurodegeneration Gene: PITRM1 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…
Cerebellar degeneration with myositis (Inflammatory myositis) Gene: SLC25A12 Transmission: Likely 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. …
Ichthyose (type Great Dane) Gene: SLC27A4 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…
