Retinal atrophy, progressive (IFT122 related)

Retinal atrophy, progressive (IFT122 related)   Gene: IFT122 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…

Retinal atrophy, progressive (NECAP1 related)

Retinal atrophy, progressive (NECAP1 related)   Gene: NECAP1 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…

Retinal atrophy, cone degeneration (Achromatopsia 3)

Retinal atrophy, cone degeneration (Achromatopsia 3)   Gene: CNGB3 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…

Primary Ciliary Dyskinesia (Alaskan Malamute type)

Primary Ciliary Dyskinesia (Alaskan Malamute type)   Gene: NME5 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…

Prekallikrein Deficiency

Prekallikrein Deficiency   Gene: KLKB1 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…

Pituitary Dwarfism, POU1F1 related

Pituitary Dwarfism, POU1F1 related   Gene: POU1F1 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…

Osteochondrodysplasia

Osteochondrodysplasia   Gene: SLC13A1 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…

Deafness, non syndromic

Deafness, non syndromic   Gene: LOXHD1 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…

Neuronal Ceroid Lipofuscinosis 12, NCL12

Neuronal Ceroid Lipofuscinosis 12, NCL12   Gene: ATP13A2 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…

Neuronal Ceroid Lipofuscinosis 7, NCL7

Neuronal Ceroid Lipofuscinosis 7, NCL7   Gene: MFSD8 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…