Mikrophthalmia in Texel sheep

Congenital microphthalmia is inherited as a monogenic autosomal recessive trait. Affected lambs are characterized by bilateral gradually variable reduced eye globes with associated ocular abnormalities. Lambs affected by microphthalmia are normally entirely blind and not able to recognize their mother within the flock. This lethal defect occurs in the international Texel sheep population. We identified the causative mutation for microphthalmia in the PITX3 gene and developed a direct genetic test, which allows the unequivocal detection of carriers. 

Funding: Swiss National Science Foundation (SNSF)