Phenotypes Associated with This Genotype

Genotype
MGI:5803980

• Allelic Composition: Tg(Dct-Grm1)ESzc/0
• Genetic Background: C57BL/6J-Tg(Dct-Grm1)ESzc

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

neoplasm

increased intraocular melanoma incidence ( J:230115 )

• mice develop spontaneous uveal melanoma by 8 months of age, with eyes showing ciliary body tumors with adjacent infiltration of the sclera by melanocytes

• melanocytic tumors are localized at the basis of the pars plicata of the ciliary body

• 2 of 6 eyes show tumor infiltration into the vitreous body

cellular

abnormal melanocyte proliferation ( J:230115 )

• mild to severe uveal melanocytic proliferation

pigmentation

abnormal melanocyte proliferation ( J:230115 )

• mild to severe uveal melanocytic proliferation

increased melanocyte number ( J:230115 )

• 7-8 month old eyes exhibit accumulation of melanocytes in the optic choroid, the iris, the optic nerve, the outer segments of photoreceptors, and in the surrounding of the episcleral veins and invasion into the episcleral veins and into the trabecular meshwork

vision/eye

increased intraocular melanoma incidence ( J:230115 )

• mice develop spontaneous uveal melanoma by 8 months of age, with eyes showing ciliary body tumors with adjacent infiltration of the sclera by melanocytes

• melanocytic tumors are localized at the basis of the pars plicata of the ciliary body

• 2 of 6 eyes show tumor infiltration into the vitreous body

abnormal ciliary body morphology ( J:230115 )

• remaining ciliary body is atrophic

anterior iris synechia ( J:230115 )

• all eyes have anterior synechia between the iris and the cornea, resulting in a closure of the chamber angle

retina degeneration ( J:230115 )

• retina is degenerated in the inner nuclear layer and/or the outer nuclear layer in eyes that show tumor infiltration into the vitreous body

retina detachment ( J:230115 )

• retina is focally detached in eyes that show tumor infiltration into the vitreous body

abnormal optic choroid morphology ( J:230115 )

• mice at 7-8 months of age show thickening of the choroid with numerous atypical melanocytes

• thickened choroids are due to melanocytic proliferation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
uveal melanoma		DOID:6039	OMIM:155720 OMIM:606660 OMIM:606661	J:230115