Phenotypes Associated with This Genotype

Genotype
MGI:5586690

• Allelic Composition: Crb2^tm1.1Wij/Crb2^tm1.1Wij; Tg(Crx-cre)1Tfur/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

nervous system

hydrocephaly ( J:210675 )

♂ • 42% incidence of severe hydrocephalus

dilated brain ventricle ( J:210675 )

♂ • ventricles of newborns with hydrocephalus are dilated and the subventricular structures are severely damaged

abnormal Muller cell morphology ( J:210675 )

♂ • disruption of the apical end-feet of Muller glial cells at 3 months of age

short retina rod cell outer segment ( J:210675 )

♂ • at 3 months of age, some areas show rod photoreceptors with short or absent outer segments and rhodopsin accumulation in the cell soma

♂ • rod bipolar cells are misplaced in the outer nuclear layer in areas with photoreceptor protrusions at 3 months of age

abnormal retina cone cell outer segment morphology ( J:210675 )

♂ • at 3 months of age, the cones show absence of or shortened outer segments and some of the nuclei are displaced to a basal part of the outer nuclear layer, close to the outer plexiform layer

short retina cone cell outer segment ( J:210675 )

vision/eye

abnormal ocular fundus morphology ( J:210675 )

♂ • several spots and patchy areas are seen in fundus imaging of 1 month old mice

abnormal retina morphology ( J:210675 )

♂ • lamination of the retina at P10 is severely affected and reduction of the thickness of the outer retina is seen at 1 month of age

♂ • distribution and localization of adherens junctions in the retina are irregular at P3

retina neovascularization ( J:210675 )

♂ • retinal vasculature is abnormal at 1 month of age, with mice showing sites of neovascularization

abnormal Muller cell morphology ( J:210675 )

♂ • disruption of the apical end-feet of Muller glial cells at 3 months of age

abnormal retina layer morphology ( J:210675 )

♂ • protrusion of photoreceptor cells into the subretinal space is seen as early as P1, P3 and P10 and misplaced inner retinal cells in the neuroepithelial layer and adjacent to the retinal pigment epithelium are seen at E18.5

abnormal retina pigment epithelium morphology ( J:210675 )

♂ • misplaced inner retinal cells in the neuroepithelial layer and adjacent to the retinal pigment epithelium are seen at E18.5

♂ • microvilli from the retinal epithelium cells are compressed between the ectopic photoreceptor nuclei and the apical membrane of the retinal pigment epithelium at P3

abnormal retina ganglion layer morphology ( J:210675 )

♂ • at P10, ectopic nuclei are seen in the ganglion cell layer

abnormal retina outer nuclear layer morphology ( J:210675 )

♂ • at 1 and 3 months of age, some residual large photoreceptor rosettes and retinal folds are seen in the outer nuclear layer

♂ • ectopic Sox9-positive Muller glial cell nuclei are seen it the top of the outer nuclear layer

thin retina outer nuclear layer ( J:210675 )

♂ • the outer nuclear layer is reduced to 4-6 rows of photoreceptor nuclei at 3 months of age

abnormal retina outer plexiform layer morphology ( J:210675 )

♂ • the outer plexiform layer is fragmented at 3 months of age

♂ • misplaced inner retinal cells in the outer plexiform layer at 1 month of age

abnormal retina photoreceptor layer morphology ( J:210675 )

♂ • at P3, rosettes composed of photoreceptor cells in the middle of the neuroepithelial layer and rosettes composed of inner retinal cells at the top of the neuroepithelial layer are seen in the periphery of the retina

♂ • photoreceptor rosettes are occasionally seen in the neuroepithelial layer at the periphery of the retina as early as E15.5

short retina rod cell outer segment ( J:210675 )

♂ • at 3 months of age, some areas show rod photoreceptors with short or absent outer segments and rhodopsin accumulation in the cell soma

♂ • rod bipolar cells are misplaced in the outer nuclear layer in areas with photoreceptor protrusions at 3 months of age

abnormal retina cone cell outer segment morphology ( J:210675 )

♂ • at 3 months of age, the cones show absence of or shortened outer segments and some of the nuclei are displaced to a basal part of the outer nuclear layer, close to the outer plexiform layer

short retina cone cell outer segment ( J:210675 )

abnormal retina outer limiting membrane morphology ( J:210675 )

♂ • disruptions of the outer limiting membrane are seen at the periphery as early as E18.5 and P3

increased susceptibility to age-related retinal degeneration ( J:210675 )

♂ • progressive retinal degeneration is seen with increasing age, characterized by an increase in the number of fundus abnormalities and a more pronounced thinning of the retina

♂ • at 5 months of age, some areas of the retina exhibit regions devoid of photoreceptors

retina fold ( J:210675 )

• at 1 and 3 months of age, some retinal folds are seen in the outer nuclear layer

abnormal electroretinogram waveform feature ( J:210675 )

♂ • by 1 month of age, retinas show a reduction in both scotopic and photopic ERG amplitudes, indicating altered rod and cone physiology

decreased a-wave amplitude ( J:210675 )

♂ • at high stimulus intensities under scotopic conditions, the a-wave is more reduced than the b-wave, resulting in a high b/a ratio and indicating a primary defect in photoreceptors

cardiovascular system

retina neovascularization ( J:210675 )

♂ • retinal vasculature is abnormal at 1 month of age, with mice showing sites of neovascularization

pigmentation

abnormal retina pigment epithelium morphology ( J:210675 )

♂ • misplaced inner retinal cells in the neuroepithelial layer and adjacent to the retinal pigment epithelium are seen at E18.5

♂ • microvilli from the retinal epithelium cells are compressed between the ectopic photoreceptor nuclei and the apical membrane of the retinal pigment epithelium at P3

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa		DOID:10584	OMIM:PS268000	J:210675