Phenotypes associated with this allele

• Allele Symbol: Impg2^em1Visu
• Allele Name: endonuclease-mediated mutation 1, Visvanathan Ramamurthy
• Allele ID: MGI:6693686
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Impg2^em1Visu/Impg2^em1Visu	involves: C57BL/6J * DBA/2	MGI:6693692
cx2	Impg1^em1Visu/Impg1^em1Visu Impg2^em1Visu/Impg2^em1Visu	involves: C57BL/6J * DBA/2	MGI:6693691

Genotype
MGI:6693692

hm1

• Allelic Composition: Impg2^em1Visu/Impg2^em1Visu
• Genetic Background: involves: C57BL/6J * DBA/2

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

vision/eye

abnormal ocular fundus morphology ( J:288311 )

• by 5 months of age most mice develop hyper-reflective clumps in the sub-retinal space resembling subretinal vitelliform lesions found in human patients

abnormal retina layer morphology ( J:288311 )

• accumulation of IMPG1 protein at the boundary of the photoreceptor outer segments and retinal pigment epithelium (RPE) and the cone specific marker PNA is mislocalized to the same region

• accumulation of material interferes with the contact between the RPE microvilli and the outer segments

abnormal cone electrophysiology ( J:288311 )

• significant decrease in scotopic ERG responses at different light intensities at 8 months of age

abnormal rod electrophysiology ( J:288311 )

• significant decrease in scotopic ERG responses at different light intensities at 8 months of age

immune system

microgliosis ( J:288311 )

• Muller reactive gliosis found in the retina proximal to the sub-retinal lesions

nervous system

microgliosis ( J:288311 )

• Muller reactive gliosis found in the retina proximal to the sub-retinal lesions

hematopoietic system

microgliosis ( J:288311 )

• Muller reactive gliosis found in the retina proximal to the sub-retinal lesions

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
vitelliform macular dystrophy		DOID:0050661	OMIM:153700 OMIM:153840 OMIM:608161 OMIM:616151 OMIM:616152	J:288311

Genotype
MGI:6693691

cx2

• Allelic Composition: Impg1^em1Visu/Impg1^em1Visu; Impg2^em1Visu/Impg2^em1Visu
• Genetic Background: involves: C57BL/6J * DBA/2

vision/eye

vision/eye phenotype ( J:288311 )

N • no changes in scotopic or photopic ERG responses or sub-retinal lesions at 8 months of age unlike in mice homozygous for Impg2 allele alone

immune system

microgliosis ( J:288311 )

• microglial activation is reduced but not eliminated compared to mice homozygous for Impg2 allele alone

nervous system

microgliosis ( J:288311 )

• microglial activation is reduced but not eliminated compared to mice homozygous for Impg2 allele alone

hematopoietic system

microgliosis ( J:288311 )

• microglial activation is reduced but not eliminated compared to mice homozygous for Impg2 allele alone