Neuronal Ceroid Lipofuscinosis 6, NCL6

Neuronal Ceroid Lipofuscinosis 6, NCL6   Gene: CLN6 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…

Centronuclear Myopathy 2, CNM2

Centronuclear Myopathy 2, CNM2 (Inherited myopathy of Great Danes)   Gene: BIN1 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…

Canine Multifocal Retinopathy 2 (CMR2)

Canine Multifocal Retinopathy 2 (CMR2)   Gene: BEST1 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…

Canine Multifocal Retinopathy 3 (CMR3)

Canine Multifocal Retinopathy 3 (CMR3)   Gene: BEST1 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…

Glycogen Storage Disease Type IIIa, GSDIIIa

Glycogen Storage Disease Type IIIa, GSDIIIa   Gene: AGL 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…

Glycogen Storage Disease Type Ia, GSD1a

Glycogen Storage Disease Type Ia, GSD1a   Gene: G6PC 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…

Mucopolysaccharidosis I, MPSI (Hurler)

Mucopolysaccharidosis I, MPSI (Hurler)   Gene: IDUA 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…

Pituitary Dwarfism, LHX3 related

Pituitary Dwarfism, LHX3 related   Gene: LHX3 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…

Polyneuropathy

Polyneuropathy   Gene: NDRG1 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…