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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Gnat2cpfl3
cone photoreceptor function loss 3
MGI:3588845
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Gnat2cpfl3/Gnat2cpfl3 ALS/LtJ MGI:3715214
cx2
 		Gnat1irdr/Gnat1irdr
Gnat2cpfl3/Gnat2cpfl3 		STOCK Gnat2cpfl3 Gnat1irdr/Boc MGI:6274001


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 (16 available); any Gnat2 mutation (35 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye
abnormal retina vasculature morphology ( J:122428 )
• dilated retinal veins and slightly constricted arterioles are observed in 8 month old mice
abnormal photoreceptor outer segment morphology ( J:122428 )
• outer segments are vacuolated by 27 weeks of age
abnormal retina cone cell morphology ( J:122428 )
• reduced labeling for alpha-transducin in cone outer segments as determined by immunocytochemistry, however, PNA staining reveals a normal number of cone outer segments
abnormal cone electrophysiology ( J:122428 )
• 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
abnormal photoreceptor outer segment morphology ( J:122428 )
• outer segments are vacuolated by 27 weeks of age
abnormal retina cone cell morphology ( J:122428 )
• 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
abnormal retina vasculature morphology ( J:122428 )
• 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




Genotype
MGI:6274001
cx2
Allelic
Composition		 Gnat1irdr/Gnat1irdr
Gnat2cpfl3/Gnat2cpfl3
Genetic
Background		 STOCK Gnat2cpfl3 Gnat1irdr/Boc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnat1irdr mutation (2 available); any Gnat1 mutation (20 available)
Gnat2cpfl3 mutation (16 available); any Gnat2 mutation (35 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye
abnormal eye electrophysiology ( J:153749 )
• as early as 3 weeks of age no rod or cone responses are detected in either light or dark adapted electroretinograms, although the retinal structure appears normal




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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory