Phenotypes Associated with This Genotype

Genotype
MGI:7564407

• Allelic Composition: Dram2^em1Jean/Dram2^em1Jean
• Genetic Background: C57BL/6J-Dram2^em1Jean

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

vision/eye

retina photoreceptor degeneration ( J:341125 )

• age-related photoreceptor degeneration starting at 18 months of age without impacting visual function (no differences in scotopic or photopic responses) even at 21 months of age

retina cone cell degeneration ( J:341125 )

• significant loss of cone photoreceptor cells is seen already at 4 months

decreased total retina thickness ( J:341125 )

• total retinal thickness is slightly, but significantly, decreased after 18 months of age

abnormal eye physiology ( J:341125 )

• one week after laser-induced choroidal neovascularization, mice exhibit an increase in lesion size compared to wild-type mice

• retinal pigment epithelium (RPE)/choroid cells reach 20% confluency when plated in a little over 3 days versus a little over 5 days for wild-type cells, indicating increased proliferation

• however, photoreceptor loss following NaIO3-induced RPE damage or following acute light-induced damage is similar to controls

homeostasis/metabolism

increased susceptibility to injury ( J:341125 )

• one week after laser-induced choroidal neovascularization, mice exhibit an increase in lesion size compared to wild-type mice

• however, photoreceptor loss following NaIO3-induced RPE damage or following acute light-induced damage is similar to controls

nervous system

retina photoreceptor degeneration ( J:341125 )

• age-related photoreceptor degeneration starting at 18 months of age without impacting visual function (no differences in scotopic or photopic responses) even at 21 months of age

retina cone cell degeneration ( J:341125 )

• significant loss of cone photoreceptor cells is seen already at 4 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cone-rod dystrophy		DOID:0050572		J:341125