Phenotypes Associated with This Genotype

Genotype
MGI:5699377

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

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

pigmentation

abnormal retina pigment epithelium morphology ( J:227177 )

• heterozgyotes also have some large multinucleated retinal pigment epithialial cells and pigment mottling throughout the fundus is more apparent with age, but the spots and ring spots found in homozygotes are not found in heterozygotes by either fundus imaging of OCT and the outer nuclear layer has a normal thickness

abnormal retina pigmentation ( J:227177 )

vision/eye

abnormal retina pigment epithelium morphology ( J:227177 )

• heterozgyotes also have some large multinucleated retinal pigment epithialial cells and pigment mottling throughout the fundus is more apparent with age, but the spots and ring spots found in homozygotes are not found in heterozygotes by either fundus imaging of OCT and the outer nuclear layer has a normal thickness

abnormal retina pigmentation ( J:227177 )

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

• unlike homozygotes, heterozygotes have normal a wave and b wave amplitudes and normal cone ERG response

abnormal rod electrophysiology ( J:227177 )

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