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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Gnat2cpfl3
cone photoreceptor function loss 3
MGI:3588845
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Gnat2cpfl3/Gnat2cpfl3 ALS/LtJ MGI:3715214


Genotype
MGI:3715214
hm1
Allelic
Composition
Gnat2cpfl3/Gnat2cpfl3
Genetic
Background
ALS/LtJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnat2cpfl3 mutation (15 available); any Gnat2 mutation (20 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
OMIM ID Ref(s)
Achromatopsia 4; ACHM4 613856 J:122428





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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory