Dilated Cardiomyopathy (ABCC9 related)

Dilated Cardiomyopathy (ABCC9 related)   Gene: ABCC9 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…

Necrotizing myelopathy

Necrotizing myelopathy   Gene: IBA57 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…

Dilated Cardiomyopathy (LMNA related)

Dilated Cardiomyopathy (LMNA related)   Gene: LMNA Transmission : Autosomal recessive, possibly dominant with 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…

Bernard-Soulier Syndrome

Bernard-Soulier Syndrome   Gene: GP9 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 dystrophy, Beckers type

Muscular dystrophy, Beckers type   Gene: DMD Transmission: Chr.X linked recessive For an X-chromosome linked recessive genetic disease, a male must have a copy of the mutation in question to be at risk of developing the disease. All affected males transmit the mutation to all females in their progeny. A female must have two copies…

Glycogen storage disease, type II

Glycogen storage disease, type II   Gene: GAA 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…

Retinopathy

Retinopathy   Gene: RDH5 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 copy…

Skeletal dysplasia

Skeletal dysplasia   Gene: LTBP3 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…

Spongy encephalopathy

Spongy encephalopathy   Gene: ASPA 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…

Cerebral dysgenesis

Cerebral dysgenesis   Gene: PEA15 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…