Phenotypes associated with this allele

• Allele Symbol: Reep6^em1Ruch
• Allele Name: endonuclease-mediated mutation 1, Rui Chen
• Allele ID: MGI:6118044
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Reep6^em1Ruch/Reep6^em1Ruch	involves: C57BL/6	MGI:6189553

Genotype
MGI:6189553

hm1

• Allelic Composition: Reep6^em1Ruch/Reep6^em1Ruch
• Genetic Background: involves: C57BL/6

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

vision/eye

abnormal photoreceptor inner segment morphology ( J:248574 )

• overall retinal layer organization appears normal at P20 but by 6 months of age, severe alterations in the inner segment of the retina are seen

photoreceptor inner segment degeneration ( J:248574 )

abnormal photoreceptor outer segment morphology ( J:248574 )

• overall retinal layer organization appears normal at P20 but by 6 months of age, severe alterations in the outer segment of the retina are seen

photoreceptor outer segment degeneration ( J:248574 )

retina photoreceptor degeneration ( J:248574 )

• progressive photoreceptor degeneration

retina outer nuclear layer degeneration ( J:248574 )

• mice exhibit progressive thinning of the outer nuclear layer and reduced rows of nuclei from 4 to 6 months of age

decreased a-wave amplitude ( J:248574 )

• photopic ERG recordings of 4 month old mice show both a-wave and b-wave reduction, indicating rod photoreceptor dysfunction, that is further reduced at 6 months

decreased b-wave amplitude ( J:248574 )

• photopic ERG recordings of 4 month old mice show both a-wave and b-wave reduction, indicating rod photoreceptor dysfunction, that is further reduced at 6 months

abnormal rod electrophysiology ( J:248574 )

• dysfunction of the rod photoreceptors

nervous system

abnormal photoreceptor inner segment morphology ( J:248574 )

• overall retinal layer organization appears normal at P20 but by 6 months of age, severe alterations in the inner segment of the retina are seen

photoreceptor inner segment degeneration ( J:248574 )

abnormal photoreceptor outer segment morphology ( J:248574 )

• overall retinal layer organization appears normal at P20 but by 6 months of age, severe alterations in the outer segment of the retina are seen

photoreceptor outer segment degeneration ( J:248574 )

retina photoreceptor degeneration ( J:248574 )

• progressive photoreceptor degeneration

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa 77		DOID:0080350	OMIM:617304	J:248574