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Phenotypes Associated with This Genotype
Genotype
MGI:5582926
Allelic
Composition
Crb1tm1Wij/Crb1+
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 (87 available)
Crb2tm1.1Wij mutation (0 available); any Crb2 mutation (52 available)
Tg(Chx10-EGFP/cre,-ALPP)2Clc mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• at P5, there is a decrease in the number of apoptotic cells in the retina
• the number of apoptotic cells is increased in the retina at E17.5
• however, at P5, there is a decrease in the number of apoptotic cells

vision/eye
• many spots and patchy areas are visible throughout the retina (pseudo-rosettes)
• disruption of the apical adherens junctions/subapical region in retinas at E15.5 which leads to ectopic localization of some photoreceptor and bipolar cells in the ganglion cell layer and ganglion, amacrine, and bipolar cells in the outer nuclear layer
• ganglion cell nuclei and inner nuclear layer cells are seen in the outer nuclear layer and some photoreceptor nuclei are seen in the ganglion cell layer
• rods, cones and bipolar cells localize ectopically in the ganglion cell layer
• amacrine and ganglion cells surrounded by bipolar cells form pseudo-rosettes in the photoreceptor layer
• the outer limiting membrane is perturbed at the periphery of the retina at E15.5, and progressively extends to the center of the retinas where rosettes form
• the number of mitotic cells is increased in the retina at E17.5 and at P5
• at P5, there is a decrease in the number of apoptotic cells in the retina
• the number of apoptotic cells is increased in the retina at E17.5
• however, at P5, there is a decrease in the number of apoptotic cells
• 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

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
03/19/2024
MGI 6.23
The Jackson Laboratory