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Phenotypes Associated with This Genotype
Genotype
MGI:5582824
Allelic
Composition
Crb1tm1Wij/Crb1tm1Wij
Crb2tm1.1Wij/Crb2tm1.1Wij
Tg(Chx10-EGFP/cre,-ALPP)2Clc/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JOlaHsd * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Crb1tm1Wij mutation (0 available); any Crb1 mutation (92 available)
Crb2tm1.1Wij mutation (0 available); any Crb2 mutation (53 available)
Tg(Chx10-EGFP/cre,-ALPP)2Clc mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• between E15.5 and E17.5, the adherens junctions are gradually lost in the neural retina
• increase in the number of Sox9-positive Muller cells
• increase in the number of GABAergic amacrine cells and late born GlyT1 positive amacrine cells
• increase in the number of Chx10-positive bipolar cells
• increase in population of late progenitor cells and late born cells due to dysregulation of the cell cycle at E17.5
• between E15.5 and E17.5, the nuclei of the retinal progenitors show abnormal orientation
• aberrant layering in the retina is seen at 1 month of age, with a single inner plexiform layer, an abnormal thick ganglion cell layer and a second broad nuclear layer
• all retinal cell types are generated but a separate photoreceptor nuclear layer, inner and outer segment layer and outer plexiform layer are not formed
• cellular mislocalization of late born cells (rod photoreceptors, Muller cells, and bipolar cells) near the retinal pigment epithelium are seen at E13.5
• no distinct photoreceptor layer is formed at P5
• increase in the number of rods at P10
• severe disorganization of the retina
• the outer limiting membrane is perturbed at E13.5
• retinal vasculature defects leading to the thinning of the retinas at 3-6 months of age
• increase in retina thickness at P10 and P14 due to excessive proliferation of late-born retinal progenitor cells
• retinas degenerate rapidly after 1 month
• from E15.5 onwards, the number of M-phase cells is increased in retinas
• proportion of retinal cells in G1 is reduced and proportion of cells in S and G2/M is increased at E17.5, however at P1 and P5, cells return to normal cell cycle
• increase in the number of apoptotic cells in the retinas at P10 and P14 (rod photoreceptors), and 3 months (bipolar cells)
• the number of apoptotic cells in the retina is increased at E13.5 and E17.5 onwards
• mice exhibit a greater reduction in amplitudes of electroretinogram responses at 1 month of age than single Crb2 conditional mutants, with both scotopic and photopic responses
• electroretinogram responses are below detection at 3 and 6 months of age

cellular
• increase in the number of apoptotic cells in the retinas at P10 and P14 (rod photoreceptors), and 3 months (bipolar cells)
• the number of apoptotic cells in the retina is increased at E13.5 and E17.5 onwards

nervous system
• increase in the number of Sox9-positive Muller cells
• increase in the number of GABAergic amacrine cells and late born GlyT1 positive amacrine cells
• increase in the number of rods at P10
• increase in the number of Chx10-positive bipolar cells

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Leber congenital amaurosis 8 DOID:0110079 OMIM:613835
J:207895


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
12/10/2024
MGI 6.24
The Jackson Laboratory