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Phenotypes Associated with This Genotype
Genotype
MGI:4367994
Allelic
Composition
Cngb3tm1Dgen/Cngb3tm1Dgen
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cngb3tm1Dgen mutation (0 available); any Cngb3 mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• cone density is reduced 40% compared to in wild-type mice
• cones in the outer segment are short, abnormal, and disorganized unlike in wild-type mice
• cones, but not rods, are disorganized in the outer segment unlike in wild-type mice
• cone density is reduced 40% compared to in wild-type mice
• under photopic conditions, mice exhibit a 20% decrease in visual acuity compared with wild-type mice
• however, contrast sensitivity is normal at lower spatial frequencies
• photoreceptor apoptosis is increased 3 and 5 times at P15 and P30, respectively, compared to in wild-type mice
• mice exhibit a 75% decrease in photopic response compared with wild-type mice

nervous system
• cone density is reduced 40% compared to in wild-type mice
• cones in the outer segment are short, abnormal, and disorganized unlike in wild-type mice
• cones, but not rods, are disorganized in the outer segment unlike in wild-type mice
• cone density is reduced 40% compared to in wild-type mice

cellular
• photoreceptor apoptosis is increased 3 and 5 times at P15 and P30, respectively, compared to in wild-type mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
achromatopsia 3 DOID:0110008 OMIM:262300
J:154304


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
02/16/2021
MGI 6.16
The Jackson Laboratory