Phenotypes Associated with This Genotype

Genotype
MGI:6275112

• Allelic Composition: Pitx2^egl1/Pitx2^egl1
• Genetic Background: C57BL/6J-Pitx2^egl1/Boc

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

pigmentation

abnormal iris pigmentation ( J:269565 )

• iris pigment loss by 3 months of age

vision/eye

optic nerve cupping ( J:269565 )

• By 3 months of age this is evident histologically and by indirect ophthalmoscopy this presents as a ring-like feature around the optic nerve head

abnormal iris pigmentation ( J:269565 )

• iris pigment loss by 3 months of age

anterior iris synechia ( J:269565 )

• by 3 months of age

cornea opacity ( J:269565 )

enlarged eye anterior chamber ( J:269565 )

• evident by 3 months of age by histology and image guided optical coherence tomography

macrophthalmia ( J:269565 )

• by 13 weeks of age

abnormal retina layer morphology ( J:269565 )

decreased total retina thickness ( J:269565 )

• complete loss of the inner retinal layers and thinning of the retina evident at 3 months of age

decreased b-wave amplitude ( J:269565 )

abnormal eye electrophysiology ( J:269565 )

• at 3 months of age ERG recordings show a normal rod a-wave but decreased rod b-waves and lower cone ERG response

abnormal cone electrophysiology ( J:269565 )

abnormal rod electrophysiology ( J:269565 )

ocular hypertension ( J:269565 )

• progressive elevated intraocular pressure found in all homozygotes by 5 weeks of age

nervous system

optic nerve cupping ( J:269565 )

• By 3 months of age this is evident histologically and by indirect ophthalmoscopy this presents as a ring-like feature around the optic nerve head

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
glaucoma		DOID:1686		J:269565