Phenotypes Associated with This Genotype

Genotype
MGI:5298219

• Allelic Composition: Pitx2^tm1.1Sac/Pitx2^tm2Sac; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Gt(ROSA)26Sor^tm1Sor/?
• Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * CBA

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

vision/eye

absent optic nerve ( J:104125 )

abnormal eye pigmentation ( J:104125 )

• devoid of pigment except for a cone shaped region in the anterior segment

abnormal retina pigmentation ( J:104125 )

• retinal pigment layer is normal at E10.5 but pigment loss begins at E12.5

decreased cornea stroma thickness ( J:104125 )

• corneal stroma and epithelium are absent

abnormal eye development ( J:104125 )

• hypomorphic hyaloid blood vessels

abnormal eye muscle development ( J:104125 )

• muscle bundles present adjacent to the anterior segment

abnormal optic stalk morphology ( J:104125 )

• eye stalk fails to extend at E12.5

• eyes directly attached to ventral diencephalon by E14.5

• retinal ganglion cell axons enter ventral thalamus and form an optic chiasma-like structure

absent sclera ( J:104125 )

anophthalmia ( J:104125 )

• eyes are not visible externally at E16.5

• eyes present but buried within the skull near the midline directly beneath the brain

• lens and retina present

pigmentation

abnormal eye pigmentation ( J:104125 )

• devoid of pigment except for a cone shaped region in the anterior segment

abnormal retina pigmentation ( J:104125 )

• retinal pigment layer is normal at E10.5 but pigment loss begins at E12.5

nervous system

absent optic nerve ( J:104125 )

muscle

abnormal eye muscle development ( J:104125 )

• muscle bundles present adjacent to the anterior segment