Phenotypes Associated with This Genotype

Genotype
MGI:7786451

• Allelic Composition: egl2/egl2
• Genetic Background: B6.Cg-egl2/Boc

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

The early-onset glaucoma 2 mutation, egl2 model.

vision/eye

retina ganglion cell degeneration ( J:359196 )

• loss of some retinal ganglion cells after the optic cupping occurs

abnormal optic cup morphology ( J:359196 )

• retinal optic cupping as early as 3 weeks of age

nervous system

hydrocephaly ( J:359196 )

• Background Sensitivity: on the C57BL/6J background there is a slight increase in the incidence of hydrocephaly, with 5-10% of homozygotes having this phenotype

retina ganglion cell degeneration ( J:359196 )

• loss of some retinal ganglion cells after the optic cupping occurs

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
glaucoma		DOID:1686		J:359196