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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Gucy2ecpfl9
cone photoreceptor function loss mutation 9
MGI:6274710
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Gucy2ecpfl9/Gucy2ecpfl9 B6;129P2-Gucy2ecpfl9/BocJ MGI:6274727


Genotype
MGI:6274727
hm1
Allelic
Composition		 Gucy2ecpfl9/Gucy2ecpfl9
Genetic
Background		 B6;129P2-Gucy2ecpfl9/BocJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gucy2ecpfl9 mutation (1 available); any Gucy2e mutation (45 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye
retina cone cell degeneration ( J:269362 )
• cone photoreceptor degeneration occurs in an otherwise normal appearing retina
retina spots ( J:269362 )
• evenly spaced white dots throughout the retina are visible by indirect ophthalmoscopy by 3 months of age
abnormal cone electrophysiology ( J:269362 )
• decreased light adapted ERG response by 3 weeks of age, which worsens with age
abnormal rod electrophysiology ( J:269362 )
• reduction in rod-mediated photoresponses in ERG by 6 months of age

nervous system
retina cone cell degeneration ( J:269362 )
• cone photoreceptor degeneration occurs in an otherwise normal appearing retina

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Leber congenital amaurosis 1 DOID:0110078 OMIM:204000
 J:269362




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
11/19/2024
MGI 6.24 		The Jackson Laboratory