Phenotypes Associated with This Genotype

Genotype
MGI:5466335

• Allelic Composition: Crb2^tm1.1Wij/Crb2^tm1.1Wij; Tg(Chx10-EGFP/cre,-ALPP)2Clc/0
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6 * SJL

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

vision/eye

abnormal retina morphology ( J:191149 )

• morphological alterations after E18.5

abnormal retina blood vessel morphology ( J:191149 )

• numerous large retinal blood vessels by 12 months of age

• sites of neovascularization by 3 months of age, sometimes with choroidal structures

abnormal retina bipolar cell morphology ( J:191149 )

• misplaced bipolar cell nuclei in the outer nuclear layer

• cells possess fewer dendrites than in controls

abnormal retina layer morphology ( J:191149 )

abnormal retina pigment epithelium morphology ( J:191149 )

• disruption of the retinal pigment layer by 3 months

abnormal retina neuronal layer morphology ( J:191149 )

thin retina outer nuclear layer ( J:191149 )

• reduced retinal thickness in the outer retina and cellular mislocalization

• most severe degeneration in the central retina

abnormal retina photoreceptor layer morphology ( J:191149 )

• normal orientation of photoreceptors is lost

• rosettes and half rosettes found in the periphery of the retina

• ectopic nuclei in subretinal space at 10 days of age, do not develop proper segments

• loss of adherens junctions near ectopic cells

• increased apoptosis between 3 and 21 days

• apoptosis level peaks around 15 days

decreased retina photoreceptor cell number ( J:191149 )

• very few photoreceptor cells by 12 months

abnormal retina cone cell morphology ( J:191149 )

• cone cells also displaced to sub retinal space

• polarity defects

• cone outer segments shorter than in controls

• cells survive to 3 months but with loss of segments

abnormal retina outer limiting membrane morphology ( J:191149 )

• sporadic disruptions of the outer limiting membrane

increased susceptibility to age-related retinal degeneration ( J:191149 )

• indications of progressive retinal degeneration by 1 month of age

• accumulation of autofluorescent remains of lost photoreceptor cells

abnormal eye electrophysiology ( J:191149 )

• progressive signal amplitude reduction with age to near extinction at 18 months of age

abnormal cone electrophysiology ( J:191149 )

• reduced amplitude of photopic electroretinography responses

abnormal rod electrophysiology ( J:191149 )

• reduced amplitude of scotopic electroretinography responses

• greater attenuation of a-waves relative to b-waves at high stimulus intensities (higher b/a ratio)

nervous system

decreased retina photoreceptor cell number ( J:191149 )

• very few photoreceptor cells by 12 months

abnormal retina bipolar cell morphology ( J:191149 )

• misplaced bipolar cell nuclei in the outer nuclear layer

• cells possess fewer dendrites than in controls

abnormal retina cone cell morphology ( J:191149 )

• polarity defects

• cone outer segments shorter than in controls

• cells survive to 3 months but with loss of segments

• cone cells also displaced to sub retinal space

pigmentation

abnormal retina pigment epithelium morphology ( J:191149 )

• disruption of the retinal pigment layer by 3 months

cardiovascular system

abnormal retina blood vessel morphology ( J:191149 )

• numerous large retinal blood vessels by 12 months of age

• sites of neovascularization by 3 months of age, sometimes with choroidal structures

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa		DOID:10584	OMIM:PS268000	J:191149