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Phenotypes Associated with This Genotype
Genotype
MGI:5699377
Allelic
Composition
Ctnna1Tvrm5/Ctnna1+
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
pigmentation
• 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

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

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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/31/2018
MGI 6.12
The Jackson Laboratory