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Phenotypes Associated with This Genotype
Genotype
MGI:3715214
Allelic
Composition
Gnat2cpfl3/Gnat2cpfl3
Genetic
Background
ALS/LtJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnat2cpfl3 mutation (16 available); any Gnat2 mutation (31 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• dilated retinal veins and slightly constricted arterioles are observed in 8 month old mice
• outer segments are vacuolated by 27 weeks of age
• reduced labeling for alpha-transducin in cone outer segments as determined by immunocytochemistry, however, PNA staining reveals a normal number of cone outer segments
• photopic responses are 25% of normal by 4 weeks of age and completely diminished by 9 months
• scotopic (rod) responses show some diminution, but are near normal by 9 months of age

nervous system
• outer segments are vacuolated by 27 weeks of age
• reduced labeling for alpha-transducin in cone outer segments as determined by immunocytochemistry, however, PNA staining reveals a normal number of cone outer segments

cardiovascular system
• dilated retinal veins and slightly constricted arterioles are observed in 8 month old mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
achromatopsia 4 DOID:0110010 OMIM:613856
J:122428


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
01/24/2023
MGI 6.22
The Jackson Laboratory