Chondrodysplasia, Munchkin phenotype (UGDH-related) Gene: UGDH Transmission: Autosomal dominant (homozygote embryo lethal) An animal with one copy of the mutation (M/N) will develop the chondrodysplasia (Munchkin) phenotype. If only one parent is a carrier (M/N), the kittens have a 50% chance of having the chondrodysplasia phenotype. If both parents are carriers, the kittens have…
Hemophilia A (H8-related) Gene: H8 Transmission: Sex 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 copies of…
Hair morphology, Glitter (FGFR2-related) Gene: FGFR2 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…
REM sleep behavior disorder (FAM8A1-related) Gene: FAM8A1 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…
Dermatosparaxis, Ehlers-Danlos syndrome, dEDS (ADAMTS2-related) Gene: ADAMTS2 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…
Hair Shaft dysplasia (DSG4-related) Gene: DSG4 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…
Thrombasthenia, Glanzmann’s (ITGA2B-linked) Gene: ITGA2B 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 6, NCL6 (CLN6-linked) 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…
Neuronal ceroid lipofuscinosis 7, NCL7 (MFSD8-linked) 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…
Vitamin D-deficiency, type 1B (CYP2R1-linked) Gene: CYP2R1 Transmission: Autosomal recessive (most likely) 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. …
