All Phenotypes Stra6<tm1.1Jvli> MGI Mouse

abnormal retina morphology ( J:214659 )

• eye cups of 28 day old mice show a discolored area in the superior retina

• inferior parts of the eyes show normal retina, RPE and choroid lamination

abnormal retina photoreceptor morphology ( J:214659 )

• mice develop photoreceptor anomalies

decreased retina cone cell number ( J:214659 )

short photoreceptor outer segment ( J:214659 )

• rod outer segment lengths are shorted

short retina rod cell outer segment ( J:214659 )

• rod outer segment lengths are shorted resulting in a reduced thickness of the rod outer segment

retina cone cell degeneration ( J:214659 )

• early cone photoreceptor death

abnormal retina pigment epithelium morphology ( J:214659 )

• morphological changes in the retinal pigment epithelium (RPE)

• in the discolored regions, RPE cells show large vacuoles and reduced melanin content

• reduction in RPE cell size

• in some areas, the RPE is directly joined to the sclera due to complete lack of the choroid

abnormal retina melanin granule morphology ( J:214659 )

• in discolored regions of the retina, melanin content is reduced

abnormal retina inner nuclear layer thickness ( J:214659 )

• reduction in thickness of the inner nuclear layer

abnormal retina outer nuclear layer morphology ( J:214659 )

• the outer nuclear layer in the inferior retina shows an altered stratification

abnormal sclera morphology ( J:214659 )

• mice exhibit altered morphology of the sclera in superior parts of the retina

abnormal optic choroid morphology ( J:214659 )

• morphological changes in the choroid

• choroid adjacent to abnormal retinal pigment epithelium is morphologically altered and is absent in some places, while in some areas the choroid is thickened and not well connected to the RPE

abnormal choroid vasculature morphology ( J:214659 )

• blood vessel leakage is seen at the level of the choroid in the superior area of the eye cup and mice show impaired choroidal vascularization

abnormal electroretinogram waveform feature ( J:214659 )

• both scotopic and photopic electroretinography (ERG) responses are diminished

• vitamin A treatment significantly improves scotopic ERG responses, but not photopic ERG responses

blindness ( J:214659 )

• both scotopic and photopic electroretinography (ERG) responses are diminished indicating blindness

abnormal vitamin A level ( J:214659 )

• 4 week old mice show a 7-fold reduction in the amount of total ocular retinoids, however mice do not display vitamin A deficiency in the blood or major storage compartments

• 4 week old mice subjected to dietary vitamin A restriction show a continuous decrease in ocular retinoid content which is hardly detectable in some mice after 14 weeks of vitamin A restriction

• mice subjected to dietary vitamin A restriction show a decrease in retinoid levels in the liver and lungs with time as is seen in controls, but the level of stored retinoids in these organs is higher than in controls

• mice fed a high vitamin A diet, however do show increased ocular retinoid content

abnormal vitamin A metabolism ( J:214659 )

• mice exhibit a block in vitamin A uptake in the eyes and brain indicating impaired vitamin A transport across the blood-retina and the blood-cerebrospinal fluid barriers

• mice treated with vitamin A show restoration of vitamin A uptake in the eyes and brain

nervous system phenotype ( J:214659 )

N	• mice are viable and do not develop signs of hydrocephalus