Cerebellar Abiotrophy


Good news!

Your horse is clear of this gene mutation for cerebellar abiotrophy

Your horse cannot pass on this mutation.

There are no breeding implications.

What is Cerebellar abiotrophy?

Cerebellar abiotrophy is the most reported brain disease in horses. This condition is caused by the loss of brain cells or Purkinje cells in the cerebellum (the part of the brain that controls a horse’s sensory perception and the ability to coordinate physical movements).

Genomic Details

Cerebellar abiotrophy is caused by a mutation in the TOE1 gene that is on chromosome 18. This gene is thought to be involved in the development of Purkinje neurons, which help to coordinate movement in the part of the brain called the cerebellum. When these Purkinje neurons do not form, the horse has coordination and movement problems. The mutation that causes cerebellar abiotrophy is a switch in one of the four base pairs that make up a DNA molecule. Guanine (G) is replaced by Adenine (A) changing the protein of the TOE1 gene.

Therefore, a horse’s genetic result for cerebellar abiotrophy can be one of three possibilities:

  • G/G: Normal. Does not have the disease. Does not have the mutation.
  • G/A: Carrier. Does not have the disease. Carries one gene mutation from one parent. This might be passed to the foal.
  • A/A: Affected. Has the genetic disease. The horse has inherited a gene mutation from each parent. One mutation will be passed to their foal.