All Phenotypes egl2 MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

egl2
early-onset glaucoma 2
MGI:7786416

Summary

1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	egl2/egl2	B6.Cg-egl2/Boc	MGI:7786451

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
egl2 mutation (1 available); any egl2 mutation (1 available)

♀	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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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