Phenotypes Associated with This Genotype

Genotype
MGI:6110583

• Allelic Composition: Gucy2e^tm1Gar/Gucy2e^tm1Gar; Nrl^tm1Asw/Nrl^tm1Asw
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6

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

vision/eye

retina cone cell degeneration ( J:241970 )

• 6 month old mice have fewer cones in the inferior versus superior retinas

thin retina outer nuclear layer ( J:241970 )

• outer nuclear layer (ONL) is 28% thinner than in single Nrl homozygotes at 6 months of age

• treatment with an adenovirus expressing Gucy2e results in cone preservation with increased ONL thickness

abnormal electroretinogram waveform feature ( J:241970 )

• ERG indicates no discernible wave forms, with no M-cone or S-cone responses

• subretinal injection of an adenovirus expressing Gucy2e at around P41, but not at P18, fully restores retinal function and useful vision over the long-term

• mice treated with an adenovirus expressing human GUCY2D at P40 exhibit restored retinal function

behavior/neurological

abnormal optokinetic reflex ( J:241970 )

• visually guided behavior testing (optokinetic reflex) shows decreased cone-mediated spatial frequency thresholds at 6 months of age

homeostasis/metabolism

abnormal enzyme/coenzyme activity ( J:241970 )

• no retinal guanylate cyclase activity in the retina

nervous system

retina cone cell degeneration ( J:241970 )

• 6 month old mice have fewer cones in the inferior versus superior retinas

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis 1		DOID:0110078	OMIM:204000	J:241970