S840 Microphtalmia
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S840
Categories: Genetic Disease, Sheep
€ 39,95 ex. VAT
€ 48,34 inc. VAT
Breed:  Texel
Sample material:  Blood EDTA, Blood Heparin, Semen, Swab, Tissue
10
working days
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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.
Specifications
Chromosome: 22
Gene: PITX3
Mode of Inheritance: Autosomal Recessive
Organ: Sensory organs
Sub-organ: Eye
Species:Sheep
Year published: 2010
Clinical Features
Micropthalmia is characterized by extremely small or absent eyes, and affected lambs are absolutely blind.
References
Omia: 649
Pubmed: 20084168