About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3697471
Allelic
Composition
Crxtm1Clc/Crxtm1Clc
Genetic
Background
involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Crxtm1Clc mutation (2 available); any Crx mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Outer retina microscopy of Crxtm1Clc/Crxtm1Clc mice

vision/eye
N
• normal lamellar formation of the retina at 14 days of age
• dendritic trees begin retracting around 5 months
• axons remain normal
• very small in size relative to controls at 7 months of age
• distinctly smaller axons at 1 to 3 months of age
• dendritic arborization is retracted from outer plexiform layer at 1 to 3 months of age and almost completely retracted by 7 months
• increased concentration and size of horizontal cell neurites which originate from axons
• thin at 3 weeks of age (J:58796)
• 1-3 rows of nuclei at 6 months of age (J:58796)
• 12 rows at 1 month of age (J:88825)
• only 1 row centrally at 7 months of age but 2 rows more peripherally (J:88825)
• loss of outer layer nuclei starting around 1 month
• only 7-9 rows at 1 month compared to about 12 rows in controls
• 2-3 rows at 3 months
• apoptosis at 21 and 35 days of age
• photoreceptor terminals are highly disorganized with no well formed rod spherules or cone pedicles
• photoreceptor cells dislocated to just beneath pigment epithelium
• very rarely do connecting cilia emerge from the inner segment by 7 days of age
• connecting cilia are unusually long at later stages
• numerous small vesicles are present, possibly derived from the inner segment
• abnormal structures occasionally seen attached to connecting cilia may be malformed outer segments
• at 2 to 3 weeks of age (J:58796)
• no outer segment formation at 14 days through 3 months (J:211011)
• no light or dark adapted responses
• no electroretinogram activity at 1 month of age
• greater than 90% reduction in activity
• less than 1% of normal rod activity at 1 month of age
• "a" and "b" waves in electroretinogram are absent

behavior/neurological
• although mice continue to be predominantly dark active, dark cycle activity is reduced
• photoentrainment is slower than in controls after a 4 hour advance in the light-dark cycle

nervous system
• dendritic trees begin retracting around 5 months
• axons remain normal
• very small in size relative to controls at 7 months of age
• distinctly smaller axons at 1 to 3 months of age
• dendritic arborization is retracted from outer plexiform layer at 1 to 3 months of age and almost completely retracted by 7 months
• increased concentration and size of horizontal cell neurites which originate from axons
• photoreceptor cells dislocated to just beneath pigment epithelium
• very rarely do connecting cilia emerge from the inner segment by 7 days of age
• connecting cilia are unusually long at later stages
• numerous small vesicles are present, possibly derived from the inner segment
• abnormal structures occasionally seen attached to connecting cilia may be malformed outer segments
• at 2 to 3 weeks of age (J:58796)
• no outer segment formation at 14 days through 3 months (J:211011)

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Leber congenital amaurosis 7 DOID:0110333 OMIM:613829
J:58796


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
04/16/2024
MGI 6.23
The Jackson Laboratory