Phenotypes Associated with This Genotype

Genotype
MGI:6163747

• Allelic Composition: Gnat2^m1Erica/Gnat2^m1Erica
• Genetic Background: C.Cg-Gnat2^m1Erica

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

vision/eye

abnormal retina morphology ( J:215293 )

• 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

abnormal Muller cell morphology ( J:215293 )

• extensive Muller cell gliosis within the retina at 12 months of age

abnormal retina cone bipolar cell morphology ( J:215293 )

• 3 month old retinas show displaced photoreceptor terminals, with cone bipolar cell dendrites extending into the ONL, with more pronounced displacement at 12 months

abnormal retina rod bipolar cell morphology ( J:215293 )

• rod bipolar cells show occasional dendrite extension into the ONL at 3 months and more extensive dendrite extension at 12 months

abnormal retina horizontal cell morphology ( J:215293 )

• 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

abnormal retina photoreceptor morphology ( J:215293 )

• 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

retina cone cell degeneration ( J:215293 )

• 27% decrease in the number of cone photoreceptors at 12 months of age but not 3 months of age, indicating cone photoreceptor degeneration

decreased a-wave amplitude ( J:215293 )

• rod a-wave amplitude is reduced only at 12 months of age compared to controls

decreased b-wave amplitude ( J:215293 )

• cone b-wave amplitudes are reduced at 3, 6, 9, and 12 months of age indicating no appreciable cone pathway response

nervous system

abnormal Muller cell morphology ( J:215293 )

• extensive Muller cell gliosis within the retina at 12 months of age

gliosis ( J:215293 )

• extensive Muller cell gliosis within the retina at 12 months of age

abnormal retina cone bipolar cell morphology ( J:215293 )

• 3 month old retinas show displaced photoreceptor terminals, with cone bipolar cell dendrites extending into the ONL, with more pronounced displacement at 12 months

abnormal retina rod bipolar cell morphology ( J:215293 )

• rod bipolar cells show occasional dendrite extension into the ONL at 3 months and more extensive dendrite extension at 12 months

abnormal retina horizontal cell morphology ( J:215293 )

• 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

abnormal retina photoreceptor morphology ( J:215293 )

• 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

retina cone cell degeneration ( J:215293 )

• 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