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Phenotypes Associated with This Genotype
Genotype
MGI:6110583
Allelic
Composition
Gucy2etm1Gar/Gucy2etm1Gar
Nrltm1Asw/Nrltm1Asw
Genetic
Background
involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gucy2etm1Gar mutation (1 available); any Gucy2e mutation (2 available)
Nrltm1Asw mutation (1 available); any Nrl mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• 6 month old mice have fewer cones in the inferior versus superior retinas
• 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
• 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
• visually guided behavior testing (optokinetic reflex) shows decreased cone-mediated spatial frequency thresholds at 6 months of age

homeostasis/metabolism
• no retinal guanylate cyclase activity in the retina

nervous system
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
03/03/2020
MGI 6.15
The Jackson Laboratory