Phenotypes Associated with This Genotype

Genotype
MGI:3693895

• Allelic Composition: Gucy2e^tm1Gar/Gucy2e^tm1Gar
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

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

vision/eye

decreased retina cone cell number ( J:77627 )

• by 5 weeks of age, number of identifiable cones is dramatically reduced

retina cone cell degeneration ( J:77627 )

• cells degenerate rapidly at 4-5 weeks of age, with few surviving at late stages

abnormal eye electrophysiology ( J:77627 )

• by 1 month of age, electroretinograms (ERG) of mutant mice are abnormal

abnormal cone electrophysiology ( J:77627 )

• at one month of age, cone responses to flashes in rod-saturating background are barely detectable

abnormal rod electrophysiology ( J:77627 )

• rod a-wave and b-wave of ERG are severely reduced at one month of age

• flash response from a rod demonstrates increased time-to-peak before decaying more rapidly than in controls; rods have a higher sensitivity than wild-type

• rods show oscillations during and after recovery from a light flash

nervous system

decreased retina cone cell number ( J:77627 )

• by 5 weeks of age, number of identifiable cones is dramatically reduced

retina cone cell degeneration ( J:77627 )

• cells degenerate rapidly at 4-5 weeks of age, with few surviving at late stages

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cone-rod dystrophy 6		DOID:0111011	OMIM:601777	J:77627