Classical Ehlers-Danlos syndrome (COL5A2-related) Gene: COL5A2 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…
Neuronal ceroid lipofuscinosis 3, NCL3 (CLN3-related) Gene: CLN3 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…
Muscle weakness, MW (CACNA1S-related) Gene: CACNA1S Transmission: Autosomal recessive (incomplete 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…
Hypohidrotic ectodermal dysplasia (HAD), X-linked (EDA-related) Gene: EDA Transmission: Chromosome X, recessive or dominant Mutations: HED1 (Deutsche Holstein cattle): Deletion, EDA gene: c.397_502 del, p.(Met133Val frameshift STOP 111), deletion exon3, Chr.X. HED2 (Deutsche Holstein cattle): Substitution, EDA gene: c.924+2T>G, intron8-9, Chr.X. HED3 (Angus-Charlais-Simmental cross): Substitution, EDA gene: c.730C>T, p.(Arg244STOP), exon5, Chr.X. HED4 (Holstein): Deletion,…
Dwarfism (B4GALT7-related) Gene: B4GALT7 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…
Curly coat (KRT25, SP6-related) Genes: KRT25, SP6 Transmission: Autosomal dominant (complex genetics) 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…
XY sex reversal (SRY-related) Gene: SRY Transmission: Y-chromosome linked Mutation: Deletion, SRY gene: deletions of variable size that remove the SRY gene from the Y chromosome. Medical system: Reproductive Breeds: Thoroughbred, Standardbred, Quarter Horse, Arab Age of onset of symptoms: Present at birth, often not recognized until after puberty. Infertility in the mare can generally…
Tiger Eye (SLC24A5-linked) Gene: SLC24A5 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…
Ichthyosis (DSP-related) Gene: DSP 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 disease than…
Retinopathy with vitamin E deficiency (RVED) plus ataxia (TTPA-related) Gene: TTPA 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…
