Phenotypes Associated with This Genotype

Genotype
MGI:7593962

• Allelic Composition: Prph2^em1Sal/Prph2⁺
• Genetic Background: C57BL/6J-Prph2^em1Sal

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

vision/eye

eye inflammation ( J:342243 )

• the percentage of CD45^high cell population is increased in retinas at 9 and 12 months of age

abnormal photoreceptor outer segment morphology ( J:342243 )

• outer segments look swollen

abnormal retina cone cell outer segment morphology ( J:342243 )

• the outer segments of cones show an unusual twisted appearance, losing the normal straight organization

thin retina outer nuclear layer ( J:342243 )

• differences in outer nuclear layer thickness start to be significant from 6 months of age

• outer nuclear layer thickness diminishes progressively and smoothly with time

• however, no differences in thickness of the inner nuclear layer is seen

retina outer nuclear layer degeneration ( J:342243 )

decreased total retina thickness ( J:342243 )

• total retinal thickness is thinner by 9 months of age

retina degeneration ( J:342243 )

abnormal electroretinogram waveform feature ( J:342243 )

• ERG responses progressively diminish with age, with responses being less severely affected than in homozygotes

decreased a-wave amplitude ( J:342243 )

• the maximum scotopic a-wave values decrease from 6 months of age (33% reduction) and remain noticeable at 20 months of age

decreased b-wave amplitude ( J:342243 )

• the maximum scotopic b-wave responses are reduced

decreased visual acuity ( J:342243 )

• visual acuity progressively decreases with age; mice show 24% reduction in visual acuity at 6 months of age and 32% reduction at 20 months of age

nervous system

abnormal photoreceptor outer segment morphology ( J:342243 )

• outer segments look swollen

abnormal retina cone cell outer segment morphology ( J:342243 )

• the outer segments of cones show an unusual twisted appearance, losing the normal straight organization

abnormal synapse morphology ( J:342243 )

• pedicles (the synaptic terminals of cone photoreceptors) show some morphological alternations in the retina, showing unusual telodendria

immune system

eye inflammation ( J:342243 )

• the percentage of CD45^high cell population is increased in retinas at 9 and 12 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
partial central choroid dystrophy		DOID:9822	OMIM:613105	J:342243