S840 Microphtalmia

S840 Categories: ,

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Breed:  Texel
Sample material:  Blood EDTA, Blood Heparin, Semen, Swab, Tissue


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Microphthalmia in sheep is an autosomal recessive inherited congenital anomaly found in the Texel breed. It is caused by a mutation in the Paired-Like Homeodomain 3 (PITX3) gene. This gene is involved in lens formation, which means that the mutation leads to an abnormal development of the lens vesicle and blindness.


Chromosome: 22

Gene: PITX3

Mode of Inheritance: Autosomal Recessive

Organ: Sensory organs

Sub-organ: Eye


Year published: 2010

Clinical Features

Micropthalmia is characterized by extremely small or absent eyes, and affected lambs are absolutely blind.


Omia: 649

Pubmed: 20084168