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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Ctnna1+
wild type
MGI:2440292
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
 		Ctnna1Tvrm5/Ctnna1+ C57BL/6J-Ctnna1Tvrm5/Pjn MGI:5699377
cx2
 		Apctm1.1Tno/Apc+
Ctnna1del/Ctnna1+ 		involves: 129S4/SvJae * C57BL/6 MGI:3764961


Genotype
MGI:5699377
ht1
Allelic
Composition		 Ctnna1Tvrm5/Ctnna1+
Genetic
Background		 C57BL/6J-Ctnna1Tvrm5/Pjn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctnna1Tvrm5 mutation (1 available); any Ctnna1 mutation (134 available)
♀ 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

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 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

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




Genotype
MGI:3764961
cx2
Allelic
Composition		 Apctm1.1Tno/Apc+
Ctnna1del/Ctnna1+
Genetic
Background		 involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apctm1.1Tno mutation (0 available); any Apc mutation (151 available)
Ctnna1del mutation (0 available); any Ctnna1 mutation (134 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
neoplasm
neoplasm ( J:127452 )
N
• the tumorigenic phenotype associated with the Apctm1.1Tno allele does not occur when both alleles are in a cis-configuration




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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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Send questions and comments to User Support. 		last database update
12/30/2025
MGI 6.24 		The Jackson Laboratory