Phenotypes Associated with This Genotype

Genotype
MGI:2680573

• Allelic Composition: Pax6^1Jrt/Pax6⁺
• Genetic Background: C3.B6-Pax6^1Jrt

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

vision/eye

abnormal iris morphology ( J:86523 )

• the posteriors of the lenses are pigmented brown and adherent to an unknown structure that is continuous with the iris

• the anterior lens region has brown pigmented surfaces continuous with the iris

anterior iris synechia ( J:86523 )

• interior surface of the cornea is completely adherent to the iris

cornea opacity ( J:86523 )

• phenotype varies from an asymmetric single spot of corneal opacity; corneal opacity of entire cornea; to asymmetric microphthalmia and anophthalmia

abnormal lens morphology ( J:86523 )

• histopathology indicates the lenses are atrophic, condensed and deeply eosinophilic, often with a central empty, possibly cystic region

microphthalmia ( J:86523 )

• phenotype varies from an asymmetric single spot of corneal opacity; corneal opacity of entire cornea; to asymmetric microphthalmia and anophthalmia

abnormal retina ganglion layer morphology ( J:86523 )

• the retinas have all the normal cell layers, but are mildly atrophic, especially in the ganglion cell layer

anophthalmia ( J:86523 )

• phenotype varies from an asymmetric single spot of corneal opacity; corneal opacity of entire cornea; to asymmetric microphthalmia and anophthalmia

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Peters anomaly		DOID:0060673	OMIM:604229	J:86523