Phenotypes Associated with This Genotype

Genotype
MGI:5817744

• Allelic Composition: Prkcq^rpea1/Prkcq^rpea1
• Genetic Background: B6.ABJ-Prkcq^rpea1/BocJ

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

pigmentation

abnormal retina pigmentation ( J:237977 )

• reduced pigmentation by 6 months of age

retina pigment epithelium atrophy ( J:237977 )

• found by 45 weeks of age, with pigmented and nonpigmented nucleated cells found in the subretinal space

nervous system

abnormal photoreceptor outer segment morphology ( J:237976 )

• 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

abnormal retina cone cell morphology ( J:237977 )

• 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

abnormal retina cone cell outer segment morphology ( J:237976 )

• 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

abnormal choroid vasculature morphology ( J:237976 )

• 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

abnormal retina blood vessel morphology ( J:237977 )

• although fluorescien angiography does not show leakage, the retinal blood vessels are attenuated by 6 months of age

vision/eye

abnormal choroid vasculature morphology ( J:237976 )

• 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

abnormal ocular fundus morphology ( J:237977 )

• fundus appears blotchy and spotted beginning at 6 weeks of age, and at 6 months of age larger confluent regions of discoloration are found

abnormal retina blood vessel morphology ( J:237977 )

• although fluorescien angiography does not show leakage, the retinal blood vessels are attenuated by 6 months of age

abnormal photoreceptor outer segment morphology ( J:237976 )

• 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

abnormal retina cone cell morphology ( J:237977 )

• 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

abnormal retina cone cell outer segment morphology ( J:237976 )

• 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

abnormal retina pigmentation ( J:237977 )

• reduced pigmentation by 6 months of age

retina pigment epithelium atrophy ( J:237977 )

• found by 45 weeks of age, with pigmented and nonpigmented nucleated cells found in the subretinal space

retina detachment ( J:237976 , J:237977 )

• 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)

serous retina detachment ( J:237977 )

abnormal eye electrophysiology ( 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