Osteogenesis imperfecta (BMP1-related) Gene: BMP1 Transmission: Autosomal, likely 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…
Osteogenesis imperfecta, type II (COL1A1-related) Gene: COL1A1 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. One or both of the parents of an animal with the mutation is a carrier of the…
Spinal muscular atrophy (KDSR-related) Gene: KDSR 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…
Ichthyosis (ABCA12-related) Gene: ABCA12 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…
Abortion and stillbirth (MIMT1-related) Gene: MIMT1 Transmission: Autosomal dominant Mutation: Imprinting error: 110 kb deletion in MIMT1 gene, a long non-coding RNA (lncRNA) gene. Medical system: Fetal development Breed: Ayrshire (Finnish) Age of onset of symptoms: Late gestation, at birth Abortions, stillbirths and embryonic lethality are problems for cattle production and the bovine artificial insemination…
Sperm, short tail (ARMC3-related) Gene: ARM3C 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…
Dwarfism (GON4L-related) Gene: GON4L 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…
Dwarfism, Bulldog calf (ACAN-related) Gene: ACAN Transmission: Autosomal dominant (incomplete) 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…
Interdigital hyperplasia (ROR2-related) Gene: ROR2 Transmission: Multifactorial. Heritability estimates of between 0.3 and 0.4. Mutation: Substitution, ROR2 gene: c.25T>A, p.(Trp9Arg), exon1, Chr.8. Medical system: Cutaneous, limbs Breed: Holstein Age of onset of symptoms: Variable, in the adult animal. Foot diseases are a common concern for dairy cattle due lameness and resulting to production and economic…
Infertility (ABHD16B-related) Gene: ABHD16B 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…
