Phenotypes for Rpgr MGI:3720014 MGI Mouse

vision/eye

abnormal ocular fundus morphology ( J:75095 , J:237833 )

• fundus has a blond appearance (J:75095)

(J:237833)

abnormal retina vasculature morphology ( J:237833 )

• telangiectasia and some leakage from vessels in the retina

abnormal retina pigmentation ( J:237833 )

• retinas show pronounced loss of pigment

thin retina outer nuclear layer ( J:237833 )

• slowly progressing decrease in outer nuclear layer thickness and outer nuclear layer cell counts with age, with decreases in the superior, inferior, and temporal regions

retina outer nuclear layer degeneration ( J:75095 , J:237833 )

• the outer nuclear layer is lost by 30 months (J:75095)

(J:237833)

abnormal retina photoreceptor layer morphology ( J:237833 )

• decrease in photoreceptor layer thickness with age such that by 24 months of age, the thickness of the photoreceptor layer is about half that at 1 month of age

• slightly smaller combined length of outer plus inner segments in the superior and temporal regions in young mice and up to 12 months of age

abnormal retina rod cell outer segment morphology ( J:237833 )

• levels of rhodopsin and transducing in rod outer segments are decreased

abnormal retina cone cell morphology ( J:237833 )

• M-cone opsin is mislocalized within cone photoreceptors

retina degeneration ( J:237833 )

decreased a-wave amplitude ( J:237833 )

• electroretinogram a-wave amplitude shows a moderate gradual reduction that continues to 24 months of age

decreased b-wave amplitude ( J:237833 )

• electroretinogram b-wave amplitude shows a moderate gradual reduction that continues to 24 months of age

abnormal cone electrophysiology ( J:237833 )

• cone-driven photopic negative response is lower at all ages and is down by 40% from that at 1 month of age

cardiovascular system

abnormal retina vasculature morphology ( J:237833 )

• telangiectasia and some leakage from vessels in the retina

telangiectasia ( J:237833 )

• in the retina

muscle