Phenotypes Associated with This Genotype

Genotype
MGI:7593964

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

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

vision/eye

eye inflammation ( J:342243 )

• 12-month-old retinas show an increase in CD45^high, CD11b, and CD169 immunopositive populations, indicating microglial inflammation and/or recruitment of monocytes and macrophages

• an increase in activated immune-related cells (CD11b+CD11chighMHC class II+) is seen at 3, 6, 9, and 12 months

• the CD169+ population is increased at 12 months of age, indicating an increase in pathogenic phagocytes in the retina

abnormal retina photoreceptor morphology ( J:342243 )

• 1-month-old mice exhibit an increase in the paracellular space in the interphotoreceptor matrix

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

• inner segments of cones are swollen

disorganized photoreceptor inner segment ( J:342243 )

• 1-month-old mice show disorganized and shorter inner segments

short photoreceptor inner segment ( J:342243 )

• 1-month-old mice show disorganized and shorter inner segments

abnormal photoreceptor outer segment morphology ( J:342243 )

• one of the most abnormal structures seen in the outer segments is a pattern of spirals or concentric circles that contain darker stained membranes

abnormal photoreceptor outer segment disc membrane morphology ( J:342243 )

• marker analysis suggests a loss of compartmentalization of the disc membranes

short photoreceptor outer segment ( J:342243 )

• 1-month-old mice show disorganized and shorter outer segments

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

• cone outer segments are practically missing

disorganized photoreceptor outer segment ( J:342243 )

• retinas exhibit membranous aggregations of outer segments that are completely disorganized

• 1-month-old mice show disorganized and shorter outer segments and inner segments

abnormal retina pigment epithelium morphology ( J:342243 )

• unusual intracellular vacuoles in the retinal pigment epithelium are seen in 1-month-old mice

thick retina inner nuclear layer ( J:342243 )

• increase in inner nuclear layer thickness is seen at 20 months of age

thin retina outer nuclear layer ( J:342243 )

• differences in outer nuclear layer thickness start to be significant from 3 months of age and the outer nuclear layer continues to degenerate over time

retina outer nuclear layer degeneration ( J:342243 )

abnormal retina outer plexiform layer morphology ( J:342243 )

• retinas show a decrease in synaptic contacts between photoreceptors and horizontal cells and between photoreceptors and ON rod bipolar cells in the outer plexiform layer indicating aberrant synaptic connectivity within this layer

decreased total retina thickness ( J:342243 )

• total retinal thickness is thinner by 3 months of age

retina degeneration ( J:342243 )

retina gliosis ( J:342243 )

• retinas exhibit elevated reactive gliosis not only at the inner margin but also throughout the entire length of Muller cells

abnormal electroretinogram waveform feature ( J:342243 )

• ERG responses progressively diminish with age, with responses being more severely affected than in heterozygotes

• photopic ERG responses show a progressive age-dependent diminution in a- and b-wave values compared to wild-type mice

decreased a-wave amplitude ( J:342243 )

• the maximum scotopic a-wave values decrease from 1 month of age (34% reduction) to almost diminished (83% reduction) at 9 months of age

decreased b-wave amplitude ( J:342243 )

• the maximum scotopic b-wave responses are reduced, although the reduction is seen later than the a-wave reduction indicating that loss of function is earlier and more marked in the outer retina than in the inner retina

decreased visual acuity ( J:342243 )

• visual acuity progressively decreases with age; mice show 29% reduction in visual acuity at 3 months of age and 78% reduction at 12 months of age

hematopoietic system

increased microglial cell activation ( J:342243 )

• retinas exhibit an increased number of Iba1+ cells with an ameboid shape, indicating microglial activation

immune system

increased microglial cell activation ( J:342243 )

• retinas exhibit an increased number of Iba1+ cells with an ameboid shape, indicating microglial activation

eye inflammation ( J:342243 )

• 12-month-old retinas show an increase in CD45^high, CD11b, and CD169 immunopositive populations, indicating microglial inflammation and/or recruitment of monocytes and macrophages

• an increase in activated immune-related cells (CD11b+CD11chighMHC class II+) is seen at 3, 6, 9, and 12 months

• the CD169+ population is increased at 12 months of age, indicating an increase in pathogenic phagocytes in the retina

nervous system

increased microglial cell activation ( J:342243 )

• retinas exhibit an increased number of Iba1+ cells with an ameboid shape, indicating microglial activation

abnormal retina photoreceptor morphology ( J:342243 )

• 1-month-old mice exhibit an increase in the paracellular space in the interphotoreceptor matrix

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

• inner segments of cones are swollen

disorganized photoreceptor inner segment ( J:342243 )

• 1-month-old mice show disorganized and shorter inner segments

short photoreceptor inner segment ( J:342243 )

• 1-month-old mice show disorganized and shorter inner segments

abnormal photoreceptor outer segment morphology ( J:342243 )

• one of the most abnormal structures seen in the outer segments is a pattern of spirals or concentric circles that contain darker stained membranes

abnormal photoreceptor outer segment disc membrane morphology ( J:342243 )

• marker analysis suggests a loss of compartmentalization of the disc membranes

short photoreceptor outer segment ( J:342243 )

• 1-month-old mice show disorganized and shorter outer segments

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

• cone outer segments are practically missing

disorganized photoreceptor outer segment ( J:342243 )

• retinas exhibit membranous aggregations of outer segments that are completely disorganized

• 1-month-old mice show disorganized and shorter outer segments and inner segments

abnormal synapse morphology ( J:342243 )

• mice show aberrant synaptic connectivity within the retina outer plexiform layer

pigmentation

abnormal retina pigment epithelium morphology ( J:342243 )

• unusual intracellular vacuoles in the retinal pigment epithelium are seen in 1-month-old mice

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