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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/Boc MGI:6274727


Genotype
MGI:6274727
hm1
Allelic
Composition
Gucy2ecpfl9/Gucy2ecpfl9
Genetic
Background
B6;129P2-Gucy2ecpfl9/Boc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gucy2ecpfl9 mutation (1 available); any Gucy2e mutation (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• cone photoreceptor degeneration occurs in an otherwise normal appearing retina
• evenly spaced white dots throughout the retina are visible by indirect ophthalmoscopy by 3 months of age
• decreased light adapted ERG response by 3 weeks of age, which worsens with age
• reduction in rod-mediated photoresponses in ERG by 6 months of age

nervous system
• 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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last database update
06/23/2022
MGI 6.20
The Jackson Laboratory