Phenotypes Associated with This Genotype

Genotype
MGI:3774852

• Allelic Composition: Tg(RHO-SCA7)R7EJman/0
• Genetic Background: involves: C57BL/6 * SJL

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

Aberrant retinal rod chromatin remodeling and segment loss in Tg(RHO-SCA7)R7EJman/0 mice compared to normal retinas in Tg(RHO-SCA7)R7NJman/0 mice

vision/eye

abnormal retina rod bipolar cell morphology ( J:65411 )

• rod-bipolar cell dendrites in the outer plexiform layer infiltrate the outer nuclear layer

abnormal retina horizontal cell morphology ( J:65411 )

• processes of horizontal cells extend within the width of the outer nuclear layer

abnormal retina photoreceptor morphology ( J:65411 )

• photoreceptor nuclei are mislocalized in the inner and outer segment layers

abnormal photoreceptor inner segment morphology ( J:65411 )

• thickness of the inner segment layer is reduced at 1 month of age

abnormal photoreceptor outer segment morphology ( J:65411 )

• thickness of the outer segment layer is reduced at 1 month of age

photoreceptor outer segment degeneration ( J:65411 )

• progressive degeneration such that at 13 months of age, photoreceptors almost completely lose their outer segments

abnormal retina rod cell morphology ( J:107098 )

• loss of segments, however retinal epithelium appears normal

• rod photoreceptors exhibit progressive and severe chromatic decondensation, associated with a massive increase in nuclear volume; rod nuclei show more euchromatin and resemble cone nuclei

• rods undergoing chromatin decondensation have completely silenced rhodopsin expression

abnormal retina outer nuclear layer morphology ( J:65411 )

• outer nuclear layer shows variations in thickness, having a wavy appearance

disorganized retina outer nuclear layer ( J:65411 )

• at 2.7 months of age, the outer nuclear layer is totally disorganized, with some parts almost adjacent to the pigmental epithelium

disorganized retina outer plexiform layer ( J:65411 )

• outer plexiform layer is disorganized at 13 months of age

increased susceptibility to age-related retinal degeneration ( J:65411 )

• progressive retinal degeneration starting at 1 month of age

retina spots ( J:80810 )

• white spots over the retina are seen at 10 weeks of age

abnormal eye electrophysiology ( J:65411 )

• mutants exhibit a non-progressive reduced a-wave response in the ERG as early as 5 weeks of age, with the a-wave amplitude decreased by about 1/3 of the normal amplitude

nervous system

abnormal retina rod bipolar cell morphology ( J:65411 )

• rod-bipolar cell dendrites in the outer plexiform layer infiltrate the outer nuclear layer

abnormal retina horizontal cell morphology ( J:65411 )

• processes of horizontal cells extend within the width of the outer nuclear layer

abnormal retina photoreceptor morphology ( J:65411 )

• photoreceptor nuclei are mislocalized in the inner and outer segment layers

abnormal photoreceptor inner segment morphology ( J:65411 )

• thickness of the inner segment layer is reduced at 1 month of age

abnormal photoreceptor outer segment morphology ( J:65411 )

• thickness of the outer segment layer is reduced at 1 month of age

photoreceptor outer segment degeneration ( J:65411 )

• progressive degeneration such that at 13 months of age, photoreceptors almost completely lose their outer segments

abnormal retina rod cell morphology ( J:107098 )

• rod photoreceptors exhibit progressive and severe chromatic decondensation, associated with a massive increase in nuclear volume; rod nuclei show more euchromatin and resemble cone nuclei

• loss of segments, however retinal epithelium appears normal

• rods undergoing chromatin decondensation have completely silenced rhodopsin expression

neuronal intranuclear inclusions ( J:65411 )

• progressive formation of ubiquitin and proteasome-immunoreactive nuclear inclusions composed of the N-terminal fragment of the mutant protein

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spinocerebellar ataxia type 7		DOID:0050958	OMIM:164500	J:65411