Phenotypes Associated with This Genotype

Genotype
MGI:4414647

• Allelic Composition: Tspan12^tm1Wye/Tspan12^tm1Wye
• Genetic Background: either: B6.129S5-Tspan12^tm1Wye or FVB.129S5-Tspan12^tm1Wye

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

cardiovascular system

cardiovascular system phenotype ( J:154863 )

N • development of the intraneural vascular plexus is normal

abnormal retina vasculature morphology ( J:154863 )

• mice exhibit precapillary arteriolar occlusions in the retinal vasculature unlike in wild-type mice

• between P5 and P12, outgrowth of nerve fiber layer vasculature is moderately delayed compared to in wild-type mice

• at P11, mice lack vertical sprouts and outer plexiform layer capillaries unlike in wild-type mice

• adult mice lack outer plexiform layer vasculature unlike in wild-type mice

• retinal vasculature stains positive for a marker of fenestration unlike in wild-type mice

retina microaneurysm ( J:154863 )

• at P16, mice exhibit microaneurysms in the retina unlike in wild-type mice

abnormal stria vascularis vasculature morphology ( J:154863 )

• at 3 months, vessels are enlarged compared to in wild-type mice

blood vessel congestion ( J:154863 )

• mice exhibit precapillary arteriolar occlusions in the retinal vasculature unlike in wild-type mice

retina hemorrhage ( J:154863 )

• adult mice exhibit focal hemorrhage in the retina unlike wild-type mice

vision/eye

abnormal retina vasculature morphology ( J:154863 )

• mice exhibit precapillary arteriolar occlusions in the retinal vasculature unlike in wild-type mice

• between P5 and P12, outgrowth of nerve fiber layer vasculature is moderately delayed compared to in wild-type mice

• at P11, mice lack vertical sprouts and outer plexiform layer capillaries unlike in wild-type mice

• adult mice lack outer plexiform layer vasculature unlike in wild-type mice

• retinal vasculature stains positive for a marker of fenestration unlike in wild-type mice

retina microaneurysm ( J:154863 )

• at P16, mice exhibit microaneurysms in the retina unlike in wild-type mice

retina hemorrhage ( J:154863 )

• adult mice exhibit focal hemorrhage in the retina unlike wild-type mice

persistence of hyaloid vascular system ( J:154863 )

• regression of the hyaloid vessel is delayed compared to in wild-type mice

abnormal retina nerve fiber layer morphology ( J:154863 )

• between P5 and P12, outgrowth of nerve fiber layer vasculature is moderately delayed compared to in wild-type mice

thin retina outer nuclear layer ( J:154863 )

retina gliosis ( J:154863 )

hearing/vestibular/ear

abnormal stria vascularis vasculature morphology ( J:154863 )

• at 3 months, vessels are enlarged compared to in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
exudative vitreoretinopathy		DOID:0050535	OMIM:PS133780	J:158585