Phenotypes Associated with This Genotype

Genotype
MGI:5582926

• Allelic Composition: Crb1^tm1Wij/Crb1⁺; Crb2^tm1.1Wij/Crb2^tm1.1Wij; Tg(Chx10-EGFP/cre,-ALPP)2Clc/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JOlaHsd * SJL

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

cellular

decreased retina apoptosis ( J:207895 )

• at P5, there is a decrease in the number of apoptotic cells in the retina

increased retina apoptosis ( J:207895 )

• 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

abnormal retina morphology ( J:207895 )

• many spots and patchy areas are visible throughout the retina (pseudo-rosettes)

abnormal retina development ( J:207895 )

• 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

abnormal retina layer morphology ( J:207895 )

• 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

abnormal retina ganglion layer morphology ( J:207895 )

• rods, cones and bipolar cells localize ectopically in the ganglion cell layer

abnormal retina photoreceptor layer morphology ( J:207895 )

• amacrine and ganglion cells surrounded by bipolar cells form pseudo-rosettes in the photoreceptor layer

abnormal retina outer limiting membrane morphology ( J:207895 )

• 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

abnormal eye physiology ( J:207895 )

• the number of mitotic cells is increased in the retina at E17.5 and at P5

decreased retina apoptosis ( J:207895 )

• at P5, there is a decrease in the number of apoptotic cells in the retina

increased retina apoptosis ( J:207895 )

• 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

abnormal electroretinogram waveform feature ( J:207895 )

• 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