About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3711279
Allelic
Composition
Gucy2etm1Gar/Gucy2etm1Gar
Gucy2ftm1Wbae/Gucy2ftm1Wbae
Genetic
Background
involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gucy2etm1Gar mutation (1 available); any Gucy2e mutation (17 available)
Gucy2ftm1Wbae mutation (0 available); any Gucy2f mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Abnormal rod outer segments in Gucy2etm1Gar/Gucy2etm1Gar Gucy2ftm1Wbae/Gucy2ftm1Wbae mice

vision/eye
• retinas have slightly decreased cone numbers relative to controls
• cone cell remnants are identified in the retina, but outer segments are absent
• at 2 months of age, outer segment lengths are ~50-70% of normal
• cone degeneration is most severe inferior to the optic nerve
• complete lack of cGMP
• rods are surrounded by blebs in interphotoreceptor matrix
• at 6 months of age, rod outer segments are severely reduced in superior/inferior and nasal/temporal quadrants
• in retina, rod outer segments are shorter and narrower than in wild-type, and appear banded by alternating regions of dense membrane layers and lumen-containing tubules
• at 6 months of age, outer nuclear layer (ONL) contains only 4-6 rows of nuclei
• scotopic electroretinographic responses are absent in all double homozygotes
• no detectable light-sensitive current is detectable in rods
• after exposure to high intensity light, followed by 1 hour of dark adaptation, a-wave amplitude recovery is completely absent in mutants compared to 70% recovery in wild-type

nervous system
• retinas have slightly decreased cone numbers relative to controls
• cone cell remnants are identified in the retina, but outer segments are absent
• at 2 months of age, outer segment lengths are ~50-70% of normal
• cone degeneration is most severe inferior to the optic nerve
• complete lack of cGMP
• rods are surrounded by blebs in interphotoreceptor matrix
• at 6 months of age, rod outer segments are severely reduced in superior/inferior and nasal/temporal quadrants
• in retina, rod outer segments are shorter and narrower than in wild-type, and appear banded by alternating regions of dense membrane layers and lumen-containing tubules

Mouse Models of Human Disease
OMIM ID Ref(s)
Leber Congenital Amaurosis 1; LCA1 204000 J:120903


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
06/15/2016
MGI 6.04
The Jackson Laboratory