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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 (8 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 (J:211011)
• normal lamellar formation of the retina at 14 days of age (J:211011)
• increased concentration and size of horizontal cell neurites which originate from axons (J:88825)
• increased concentration and size of horizontal cell neurites which originate from axons (J:88825)
• dendritic trees begin retracting around 5 months (J:88825)
• axons remain normal (J:88825)
• dendritic trees begin retracting around 5 months (J:88825)
• axons remain normal (J:88825)
• very small in size relative to controls at 7 months of age (J:88825)
• distinctly smaller axons at 1 to 3 months of age (J:88825)
• dendritic arborization is retracted from outer plexiform layer at 1 to 3 months of age and almost completely retracted by 7 months (J:88825)
• very small in size relative to controls at 7 months of age (J:88825)
• distinctly smaller axons at 1 to 3 months of age (J:88825)
• dendritic arborization is retracted from outer plexiform layer at 1 to 3 months of age and almost completely retracted by 7 months (J:88825)
• thin at 3 weeks of age (J:58796)
• 1-3 rows of nuclei at 6 months of age (J:58796)
• 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)
• 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 (J:211011)
• only 7-9 rows at 1 month compared to about 12 rows in controls (J:211011)
• 2-3 rows at 3 months (J:211011)
• apoptosis at 21 and 35 days of age (J:211011)
• loss of outer layer nuclei starting around 1 month (J:211011)
• only 7-9 rows at 1 month compared to about 12 rows in controls (J:211011)
• 2-3 rows at 3 months (J:211011)
• apoptosis at 21 and 35 days of age (J:211011)
• photoreceptor terminals are highly disorganized with no well formed rod spherules or cone pedicles (J:95886)
• photoreceptor terminals are highly disorganized with no well formed rod spherules or cone pedicles (J:95886)
• photoreceptor cells dislocated to just beneath pigment epithelium (J:58796)
• photoreceptor cells dislocated to just beneath pigment epithelium (J:58796)
• very rarely do connecting cilia emerge from the inner segment by 7 days of age (J:95886)
• connecting cilia are unusually long at later stages (J:95886)
• very rarely do connecting cilia emerge from the inner segment by 7 days of age (J:95886)
• connecting cilia are unusually long at later stages (J:95886)
• numerous small vesicles are present, possibly derived from the inner segment (J:95886)
• abnormal structures occasionally seen attached to connecting cilia may be malformed outer segments (J:95886)
• numerous small vesicles are present, possibly derived from the inner segment (J:95886)
• abnormal structures occasionally seen attached to connecting cilia may be malformed outer segments (J:95886)
• at 2 to 3 weeks of age (J:58796)
• at 2 to 3 weeks of age (J:58796)
• no outer segment formation at 14 days through 3 months (J:211011)
• no outer segment formation at 14 days through 3 months (J:211011)
• no light or dark adapted responses (J:211011)
• no light or dark adapted responses (J:211011)
• no electroretinogram activity at 1 month of age (J:58796)
• greater than 90% reduction in activity (J:58796)
• no electroretinogram activity at 1 month of age (J:58796)
• greater than 90% reduction in activity (J:58796)
• less than 1% of normal rod activity at 1 month of age (J:58796)
• "a" and "b" waves in electroretinogram are absent (J:58796)
• less than 1% of normal rod activity at 1 month of age (J:58796)
• "a" and "b" waves in electroretinogram are absent (J:58796)

behavior/neurological
• although mice continue to be predominantly dark active, dark cycle activity is reduced (J:58796)
• although mice continue to be predominantly dark active, dark cycle activity is reduced (J:58796)
• photoentrainment is slower than in controls after a 4 hour advance in the light-dark cycle (J:58796)
• photoentrainment is slower than in controls after a 4 hour advance in the light-dark cycle (J:58796)

nervous system
• increased concentration and size of horizontal cell neurites which originate from axons (J:88825)
• increased concentration and size of horizontal cell neurites which originate from axons (J:88825)
• dendritic trees begin retracting around 5 months (J:88825)
• axons remain normal (J:88825)
• dendritic trees begin retracting around 5 months (J:88825)
• axons remain normal (J:88825)
• very small in size relative to controls at 7 months of age (J:88825)
• distinctly smaller axons at 1 to 3 months of age (J:88825)
• dendritic arborization is retracted from outer plexiform layer at 1 to 3 months of age and almost completely retracted by 7 months (J:88825)
• very small in size relative to controls at 7 months of age (J:88825)
• distinctly smaller axons at 1 to 3 months of age (J:88825)
• dendritic arborization is retracted from outer plexiform layer at 1 to 3 months of age and almost completely retracted by 7 months (J:88825)
• photoreceptor cells dislocated to just beneath pigment epithelium (J:58796)
• photoreceptor cells dislocated to just beneath pigment epithelium (J:58796)
• very rarely do connecting cilia emerge from the inner segment by 7 days of age (J:95886)
• connecting cilia are unusually long at later stages (J:95886)
• very rarely do connecting cilia emerge from the inner segment by 7 days of age (J:95886)
• connecting cilia are unusually long at later stages (J:95886)
• numerous small vesicles are present, possibly derived from the inner segment (J:95886)
• abnormal structures occasionally seen attached to connecting cilia may be malformed outer segments (J:95886)
• numerous small vesicles are present, possibly derived from the inner segment (J:95886)
• abnormal structures occasionally seen attached to connecting cilia may be malformed outer segments (J:95886)
• at 2 to 3 weeks of age (J:58796)
• at 2 to 3 weeks of age (J:58796)
• no outer segment formation at 14 days through 3 months (J:211011)
• no outer segment formation at 14 days through 3 months (J:211011)

Mouse Models of Human Disease
OMIM ID Ref(s)
Leber Congenital Amaurosis 7; LCA7 613829 J:58796


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory