Ataxia, cerebellar (SELENOP-related) Gene: SELENOP (also called SEPP1) 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…
Ataxia, spinocerebellar (ITPR1-related) Gene: ITPR1 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…
Microphthalmia with haematopoietic defects (DNAJC21-related) Gene: DNAJC21 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…
Neuropathy, hereditary sensory and autonomic (congenital insensitivity to pain) (SCN9A-related) Gene: SCN9A 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…
Dystonia-ataxia syndrome (TNR-related) Gene: TNR 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…
Deafness (KLF7-related) Gene: KLF7 Transmission: Unknown, variable penetration, possibly complex genetics Mutation: Substitution, KLF7 gene: c.517 C>T, p.(Leu173Phe), exon2, Chr.37. Medical system: Hearing Breed: Age of onset of symptoms: From birth (congenital) Deafness is the reduced or absent ability to hear sounds. It is a common condition in both dogs and humans that can have…
X-linked severe combined immunodeficiency, XSCID (IL2RG-related) Gene: IL2RG Transmission: X chromosome 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…
Factor XI deficiency (F11-related) Gene: F11 Transmission: Autosomal recessive (variable 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 of the mutation. Animals…
Craniomandibular osteopathy (SLC35D1-related) Gene: SLC35D1 Transmission: Autosomal dominant (complex genetics) Mutation: Deletion, SLC35D1 gene: c.1021_1024 del.TCAG, p.(Ser341Arg frame shift STOP 22), Chr.5. Medical system: Skeletal Breed: Weimaraner Age of onset of symptoms: Young dogs in growth phase (3 to 7 months) Craniomandibular osteopathy (CMO) is a non-neoplastic proliferative bone disease that primarily affects the skull…
Mucolipidosis type II (GNTPAB-related) Gene: GNTPAB 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…
