Mouse Genome Informatics
hm
    Nr2e3rd7/Nr2e3rd7
B6.Cg-Nr2e3rd7/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Outer nuclear layer sections, hand-drawn diagrams, electron micrographs of Nr2e3rd7 mouse retina.

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

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
• outer segment layer is shorter than wild-type at 6 weeks of age
• mutants exhibit an increase in the number of S-opsin-expressing cones

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

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