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Phenotypes Associated with This Genotype
Genotype
MGI:3709293
Allelic
Composition
Nr2e3rd7/Nr2e3rd7
Genetic
Background
B6.Cg-Nr2e3rd7/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nr2e3rd7 mutation (2 available); any Nr2e3 mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Nr2e3rd7/Nr2e3rd7 retina contains a morphologically hybrid photoreceptor cell type and supernumerary S-Opsin-positive cones

vision/eye
• retinal neurons have increased rates of apoptosis at 1.5 months of age (J:148636)
• retinal neurons have increased rates of apoptosis at 1.5 months of age (J:148636)
• majority of photoreceptors appear to represent a hybrid cell type, intermediate between normal rods and cones, that have features of both rods and cones (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 (J:107820)
• outer segment layer is shorter than wild-type at 6 weeks of age (J:148636)
• outer segment layer is shorter than wild-type at 6 weeks of age (J:148636)
• mutants exhibit an increase in the number of S-opsin-expressing cones (J:107820)
• mutants exhibit an increase in the number of S-opsin-expressing cones (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 (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 (J:107820)
• many displaced nuclei are observed in the outer segment at 6 months of age compared to controls (J:148636)
• many displaced nuclei are observed in the outer segment at 6 months of age compared to controls (J:148636)
• a 32.6 % reduction in photoreceptor nuclei is observed in the outer nuclear layer by 10 months of age (J:148636)
• a 32.6 % reduction in photoreceptor nuclei is observed in the outer nuclear layer by 10 months of age (J:148636)

nervous system
• majority of photoreceptors appear to represent a hybrid cell type, intermediate between normal rods and cones, that have features of both rods and cones (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 (J:107820)
• outer segment layer is shorter than wild-type at 6 weeks of age (J:148636)
• outer segment layer is shorter than wild-type at 6 weeks of age (J:148636)
• mutants exhibit an increase in the number of S-opsin-expressing cones (J:107820)
• mutants exhibit an increase in the number of S-opsin-expressing cones (J:107820)

cellular
• retinal neurons have increased rates of apoptosis at 1.5 months of age (J:148636)
• retinal neurons have increased rates of apoptosis at 1.5 months of age (J:148636)

Mouse Models of Human Disease
OMIM ID Ref(s)
Enhanced S-Cone Syndrome; ESCS 268100 J:107820


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory