Classical Ehlers-Danlos syndrome (cEDS) Gene: COL5A1 Transmission: Autosomal, dominant The animal only has to have one copy of the mutation to be at risk of developing hypertrophic cardiomyopathy. Animals with two copies of the mutation generally have more severe symptoms and an earlier onset of the disease than animals with just one copy of the…
Autoimmune lymphoproliferative syndrome Gene: FASLG 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…
Long QT Syndrome (KCNQ1-linked) Gene: KCNQ1 Transmission: Autosomal dominant For an autosomal dominant genetic disease, an animal must have at least one copy of the mutation in question to be at risk of developing the disease. Animals with two copies of the mutation generally have more severe symptoms and an earlier onset of the…
Waardenburg Syndrome, type 2A, MITF-related Gene: MITF Transmission: Autosomal dominant Mutation: Deletion, MITF gene; c.668_670 dél, p.(R224 dél), chr.22. Medical systems: Cutaneous Breeds: Age of onset of symptoms: From birth. A white Angus calf was born to black Angus parents. Genomic sequencing of the three animals revealed a heterozygous de-novo mutation within the MITF…
Neuropathy with splayed forelimbs (JNS), UCHL1-related Gene: UCHL1 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…
Charcot-Marie-Tooth disease, FGD4-related Gene: FGD4 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…
Skeletal, cardiac and enteric dysplasia, MAP2K2-related Gene: MAP2K2 Transmission: Autosomal dominant Mutation: Substitution, MAP2K2 gene; c.535 G>A, p.(R179W), exon5, chr.7. Medical systems: Skeletal, cardiac, intestinal Breeds: Age of onset of symptoms: At birth. An isolated case of skeletal, cardiac, and enteric dysplasia was seen in a single stillborn calf of the Romagnole cattle breed. …
Hemophilia A, F8-related Gene: F8 Transmission: Chr.X, 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 the…
Complex vertebral malformation (CVM) Gene: SLC35A3 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…
Renal Dysplasia, CLDN16-related Gene: CLDN16 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…
