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Phenotypes Associated with This Genotype
Genotype
MGI:5817744
Allelic
Composition
Prkcqrpea1/Prkcqrpea1
Genetic
Background
B6.ABJ-Prkcqrpea1/Boc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prkcqrpea1 mutation (2 available); any Prkcq mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• reduced pigmentation by 6 months of age
• found by 45 weeks of age, with pigmented and nonpigmented nucleated cells found in the subretinal space

nervous system
• electron microscopy shows bends, distortions, and resulting disorganization in the apical tips of the outer segments and the apical microvilli of the retinal pigment epithelium abuts the outer segment tips rather than extending between them, but at 30 days of age the outersegment underlying the retinal detachment is mostly intact
• the width of the outer segment layer declines after 30 days of age in a variable and patchy manner
• although PNA and blue opsin staining of the ventral retina appear normal, the dorsal cone matrix sheaths are shorter than normal by 6 months of age, in both attached and detached regions of the retina
• staining with peanut agglutinin shows a reduction in cone matrix sheath in areas near shallow retinal detachments at 30 days of age and with age this progresses to a dramatic loss of staining in the outer sheath layer but an increase in staining in the outer nuclear layer

cardiovascular system
• abnormally large choroidal blood vessels with thickened walls are found sclerad to areas of retinal detachment at 60 days of age but not 30 days of age
• although fluorescien angiography does not show leakage, the retinal blood vessels are attenuated by 6 months of age

vision/eye
• abnormally large choroidal blood vessels with thickened walls are found sclerad to areas of retinal detachment at 60 days of age but not 30 days of age
• fundus appears blotchy and spotted beginning at 6 weeks of age, and at 6 months of age larger confluent regions of discoloration are found
• although fluorescien angiography does not show leakage, the retinal blood vessels are attenuated by 6 months of age
• electron microscopy shows bends, distortions, and resulting disorganization in the apical tips of the outer segments and the apical microvilli of the retinal pigment epithelium abuts the outer segment tips rather than extending between them, but at 30 days of age the outersegment underlying the retinal detachment is mostly intact
• the width of the outer segment layer declines after 30 days of age in a variable and patchy manner
• although PNA and blue opsin staining of the ventral retina appear normal, the dorsal cone matrix sheaths are shorter than normal by 6 months of age, in both attached and detached regions of the retina
• staining with peanut agglutinin shows a reduction in cone matrix sheath in areas near shallow retinal detachments at 30 days of age and with age this progresses to a dramatic loss of staining in the outer sheath layer but an increase in staining in the outer nuclear layer
• reduced pigmentation by 6 months of age
• found by 45 weeks of age, with pigmented and nonpigmented nucleated cells found in the subretinal space
• areas of shallow detachments, without tearing, are found at 30 days of age by optical coherence tomography and these areas of detachment increase in size, number, and height with age (J:237976)
• by 6 weeks of age there are focal areas of retinal detachment, consistent with the reduced pigmentation (J:237977)
• electroretinograms show a slight decline at 1 month of age and a significant impairment of rod response at 6 months but only a slight decrease in cone response at 6 months and the rod response is not much changed between 6 and 9 months of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
retinal detachment DOID:5327 J:237977


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/23/2021
MGI 6.16
The Jackson Laboratory