Phenotypes Associated with This Genotype

Genotype
MGI:6693692

• 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