Phenotypes Associated with This Genotype

Genotype
MGI:3709293

• 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