Hypertrophic Cardiomyopathy (Sphynx type)
Hypertrophic Cardiomyopathy (Sphynx type) Gene : ALMS1 Transmission : Autosomal, probably 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 Leucocyte Adhesion Deficiency (CLAD), Type1
Canine Leucocyte Adhesion Deficiency (CLAD) , Type1 Gene: ITGB2 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…
Retinal Atrophy, progressive, Type I
Retinal Atrophy, progressive, Type I (Photoreceptor dysplasia) Genes: PPT1, also HIVEP3 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…
Spondylocostal Dysostosis (Comma Defect)
Spondylocostal Dysostosis (Comma Defect) Gene: HES7 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…
Laryngeal Paralysis (Bull Terrier)
Laryngeal Paralysis (Bull Terrier) Gene: RAPGEF6 Transmission: Complex Mutation: Insertion, RAPGEF6 gene; c.1793_1794 ins. 36 bp, p.(I587P fs STOP 5) Medical system: Respiratory Breeds: Note that laryngeal paralysis has also been associated with mutations in additional genes, including: ARHGEF10, OMIA link: [1917-9615] GJA9, OMIA link: [2119-9615] RAB3GAP1, OMIA link: [1970-9615] SBF2, OMIA link: [2284-9615]…
Retinal atrophy, X-Linked (XLPRA1)
Retinal atrophy, X-Linked (XLPRA1) Gene: RPGR Transmission: X-linked inheritance For a chromosome X-linked recessive genetic disease, a male animal must have one copy of the mutation in question to be at risk of developing the disease. All affected males will pass on the mutation to all of its female progeny. A female animal must have…