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Phenotypes Associated with This Genotype
Genotype
MGI:5699376
Allelic
Composition
Ctnna1Tvrm5/Ctnna1Tvrm5
Genetic
Background
C57BL/6J-Ctnna1Tvrm5/Pjn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctnna1Tvrm5 mutation (2 available); any Ctnna1 mutation (93 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system

vision/eye
• 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
• 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
• fine pigment mottling is found throughout the fundus
• optical coherence tomography B scan shows distorton of the photoreceptor inner-outer segment junction and external limiting membrane toward the vitreous
• 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
• retinal spots and ring spots are found
• strobe flash ERGs show reduced dark adapted a-wave and b-wave amplitudes for homozygotes but not heterozgytoes
• strobe flash ERGs show reduced dark adapted a-wave and b-wave amplitudes for homozygotes but not heterozgytoes
• direct current electroretinography of both homozygotes and heterozygotes finds reduced c wave amplitude, fast oscillation and off-response
• direct current electroretinography at 1 year of age shows reduced amplitude in both homozygotes and heterozgyotes relative to C57BL/6J controls

pigmentation
• 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
• 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


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
12/10/2019
MGI 6.14
The Jackson Laboratory