Phenotypes associated with this allele

• Allele Symbol: Nr2e3^rd7
• Allele Name: retinal degeneration 7
• Allele ID: MGI:1859180
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nr2e3^rd7/Nr2e3^rd7	B6.Cg-Nr2e3^rd7/J	MGI:3709293
hm2	Nr2e3^rd7/Nr2e3^rd7	Not Specified	MGI:2668613

Genotype
MGI:3709293

hm1

• Allelic Composition: Nr2e3^rd7/Nr2e3^rd7
• Genetic Background: B6.Cg-Nr2e3^rd7/J

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

Nr2e3^rd7/Nr2e3^rd7 retina contains a morphologically hybrid photoreceptor cell type and supernumerary S-Opsin-positive cones

vision/eye

increased retina apoptosis ( J:148636 )

• retinal neurons have increased rates of apoptosis at 1.5 months of age

abnormal retina photoreceptor morphology ( J:107820 )

• majority of photoreceptors appear to represent a hybrid cell type, intermediate between normal rods and cones, that have features of both rods and cones

short photoreceptor outer segment ( J:148636 )

• outer segment layer is shorter than wild-type at 6 weeks of age

abnormal retina cone cell morphology ( J:107820 )

• mutants exhibit an increase in the number of S-opsin-expressing cones

abnormal retina outer nuclear layer morphology ( J:107820 )

• overall columnar architecture of the outer nuclear layer is disrupted in the portion of the retina in which there is an increase in the number of S-opsin-expressing cones

disorganized retina outer nuclear layer ( J:148636 )

• many displaced nuclei are observed in the outer segment at 6 months of age compared to controls

retina outer nuclear layer degeneration ( J:148636 )

• a 32.6 % reduction in photoreceptor nuclei is observed in the outer nuclear layer by 10 months of age

nervous system

abnormal retina photoreceptor morphology ( J:107820 )

• majority of photoreceptors appear to represent a hybrid cell type, intermediate between normal rods and cones, that have features of both rods and cones

short photoreceptor outer segment ( J:148636 )

• outer segment layer is shorter than wild-type at 6 weeks of age

abnormal retina cone cell morphology ( J:107820 )

• mutants exhibit an increase in the number of S-opsin-expressing cones

cellular

increased retina apoptosis ( J:148636 )

• retinal neurons have increased rates of apoptosis at 1.5 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
enhanced S-cone syndrome		DOID:0090059	OMIM:268100	J:107820

Genotype
MGI:2668613

hm2

• Allelic Composition: Nr2e3^rd7/Nr2e3^rd7
• Genetic Background: Not Specified

Retinal spotting and degeneration in Nr2e3^rd7/Nr2e3^rd7 mice

vision/eye

retina degeneration ( J:62171 )

• evenly spaced white spots apparent by one month of age

abnormal cone electrophysiology ( J:62171 )

• progressive reduction of cone signals as measures by electroretinographs

• amplitude of signals was 50% of normal by 16 months of age

abnormal rod electrophysiology ( J:62171 )

• progressive reduction of rod signals as measures by electroretinographs

• amplitude of signals was 50% of normal by 16 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
enhanced S-cone syndrome		DOID:0090059	OMIM:268100	J:62171