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Phenotypes Associated with This Genotype
Genotype
MGI:6163747
Allelic
Composition
Gnat2m1Erica/Gnat2m1Erica
Genetic
Background
C.Cg-Gnat2m1Erica
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnat2m1Erica mutation (0 available); any Gnat2 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• cone transducin expression in the retina is absent
• cone M-opsin is mislocalized to the photoreceptor cell bodies in the outer nuclear layer and the terminals in the outer plexiform layer
• however, localization of S-opsin and rhodopsin are normal
• extensive Muller cell gliosis within the retina at 12 months of age
• 3 month old retinas show displaced photoreceptor terminals, with cone bipolar cell dendrites extending into the ONL, with more pronounced displacement at 12 months
• rod bipolar cells show occasional dendrite extension into the ONL at 3 months and more extensive dendrite extension at 12 months
• horizontal cell processes extend into the outer nuclear layer (ONL) at 3 months of age, with increased horizontal cell process displacement into the ONL at 12 months
• marker analysis indicates retinal remodeling, with photoreceptor terminals occasionally displaced in the outer nuclear layer (ONL) with horizontal cell processes also extending into the ONL at 3 months of age and increased photoreceptor terminal and horizontal cell process displacement into the ONL at 12 months
• 27% decrease in the number of cone photoreceptors at 12 months of age but not 3 months of age, indicating cone photoreceptor degeneration
• rod a-wave amplitude is reduced only at 12 months of age compared to controls
• cone b-wave amplitudes are reduced at 3, 6, 9, and 12 months of age indicating no appreciable cone pathway response

nervous system
• extensive Muller cell gliosis within the retina at 12 months of age
• extensive Muller cell gliosis within the retina at 12 months of age
• 3 month old retinas show displaced photoreceptor terminals, with cone bipolar cell dendrites extending into the ONL, with more pronounced displacement at 12 months
• rod bipolar cells show occasional dendrite extension into the ONL at 3 months and more extensive dendrite extension at 12 months
• horizontal cell processes extend into the outer nuclear layer (ONL) at 3 months of age, with increased horizontal cell process displacement into the ONL at 12 months
• marker analysis indicates retinal remodeling, with photoreceptor terminals occasionally displaced in the outer nuclear layer (ONL) with horizontal cell processes also extending into the ONL at 3 months of age and increased photoreceptor terminal and horizontal cell process displacement into the ONL at 12 months
• 27% decrease in the number of cone photoreceptors at 12 months of age but not 3 months of age, indicating cone photoreceptor degeneration

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
achromatopsia 4 DOID:0110010 OMIM:613856
J:215293


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
02/16/2021
MGI 6.16
The Jackson Laboratory