About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:6274727
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory