Phenotypes Associated with This Genotype

Genotype
MGI:7261162

• Allelic Composition: Nf2^tm2Gth/Nf2^tm2Gth; Tg(rx3-icre)1Mjam/0
• Genetic Background: involves: 129P2/OlaHsd

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

vision/eye

retina pigment epithelium hyperplasia ( J:322987 )

• in all subdivisions of the ventral optic cup

failure of eyelid fusion ( J:322987 )

abnormal optic cup morphology ( J:322987 )

• increased cell numbers in the ventral optic cup

• ectopic retinal pigment epithelium in the dorsal optic cup

abnormal optic fissure morphology ( J:322987 )

• with less advanced alignment of margins and increased cellular height particularly in the temporal optic fissure

coloboma ( J:322987 )

• failure of optic fissure fusion during the final process of closing persisting into later stages

abnormal eye physiology ( J:322987 )

• increased ventral retinal pigmented epithelium proliferation

craniofacial

cleft upper lip ( J:322987 )

cleft palate ( J:322987 )

growth/size/body

cleft upper lip ( J:322987 )

cleft palate ( J:322987 )

digestive/alimentary system

cleft palate ( J:322987 )

pigmentation

retina pigment epithelium hyperplasia ( J:322987 )

• in all subdivisions of the ventral optic cup

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
coloboma		DOID:12270	OMIM:120200 OMIM:120300 OMIM:216820	J:322987