Phenotypes Associated with This Genotype

Genotype
MGI:5699376

• Allelic Composition: Ctnna1^Tvrm5/Ctnna1^Tvrm5
• Genetic Background: C57BL/6J-Ctnna1^Tvrm5/Pjn

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

nervous system

retina photoreceptor degeneration ( J:227177 )

retina cone cell degeneration ( J:227177 )

retina rod cell degeneration ( J:227177 )

vision/eye

abnormal ocular fundus morphology ( J:227177 )

• indirect ophthalmoscopy shows widespread fundus mottling with occasional bright spots, which often have dark centers, and bright-field fundus imaging shows lesions in the central fundus that are biased toward the posterior pole, which correspond to the spots

retina photoreceptor degeneration ( J:227177 )

retina cone cell degeneration ( J:227177 )

retina rod cell degeneration ( J:227177 )

abnormal retina pigment epithelium morphology ( J:227177 )

• dysmorphology of retinal pigment epithelial cells includes circular F-actin structures, vertices shared by 4 or mores cells, and large multinucleated retinal pigment epithelial cells. Focal thickenings of retinal pigment epithelium are found along with distortions of the overlying retinal layers and eosinophilic inclusions that appear similar to hard drusen

• by one month of age histology finds ectopic pigmented cells in focal lesions on the apical surface of the retinal pigment epithelium, causing a slight thickening of the retinal pigment epithelial layer and outer retinal distortion, single pigmented cells are also found, and eosinophilic inclusions are found frequently within the retinal pigment epithelial cell layer

abnormal retina pigmentation ( J:227177 )

• fine pigment mottling is found throughout the fundus

thin retina outer nuclear layer ( J:227177 )

• between 1 and 3 months oaf age the outer nuclear layer is approximately 9% less than normal and by 12-14 months of age it is approximately 15% thinner than normal

abnormal retina outer limiting membrane morphology ( J:227177 )

• optical coherence tomography B scan shows distorton of the photoreceptor inner-outer segment junction and external limiting membrane toward the vitreous

retina spots ( J:227177 )

• retinal spots and ring spots are found

decreased a-wave amplitude ( J:227177 )

• strobe flash ERGs show reduced dark adapted a-wave and b-wave amplitudes for homozygotes but not heterozgytoes

decreased b-wave amplitude ( J:227177 )

• strobe flash ERGs show reduced dark adapted a-wave and b-wave amplitudes for homozygotes but not heterozgytoes

abnormal c-wave shape ( J:227177 )

• direct current electroretinography of both homozygotes and heterozygotes finds reduced c wave amplitude, fast oscillation and off-response

abnormal eye electrophysiology ( J:227177 )

• direct current electroretinography at 1 year of age shows reduced amplitude in both homozygotes and heterozgyotes relative to C57BL/6J controls

abnormal rod electrophysiology ( J:227177 )

pigmentation

abnormal retina pigment epithelium morphology ( J:227177 )

• dysmorphology of retinal pigment epithelial cells includes circular F-actin structures, vertices shared by 4 or mores cells, and large multinucleated retinal pigment epithelial cells. Focal thickenings of retinal pigment epithelium are found along with distortions of the overlying retinal layers and eosinophilic inclusions that appear similar to hard drusen

• by one month of age histology finds ectopic pigmented cells in focal lesions on the apical surface of the retinal pigment epithelium, causing a slight thickening of the retinal pigment epithelial layer and outer retinal distortion, single pigmented cells are also found, and eosinophilic inclusions are found frequently within the retinal pigment epithelial cell layer

abnormal retina pigmentation ( J:227177 )

• fine pigment mottling is found throughout the fundus

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
patterned macular dystrophy 2		DOID:0060864	OMIM:608970	J:227177