Phenotypes Associated with This Genotype

Genotype
MGI:5702873

• Allelic Composition: Gt(ROSA)26Sor^{tm1(GNAQ*)Cvrk}/Gt(ROSA)26Sor⁺; Tg(Mitf-cre)7114Gsb/0
• Genetic Background: C3FeJ.Cg-Gt(ROSA)26Sor^{tm1(GNAQ*)Cvkr} Tg(Mitf-cre)7114Gsb/Cvrk

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

pigmentation

abnormal melanocyte proliferation ( J:225597 )

abnormal coat/hair pigmentation ( J:225597 )

• loss of hair pigmentation in 5 months with irregular deposition of pigment

abnormal skin pigmentation ( J:225597 )

• hyperpigmentation at 3 weeks of age that progresses to extremely dark skin by 3 months

abnormal dermal pigmentation ( J:225597 )

• the trunk dermis contains abundant melanin

abnormal epidermal pigmentation ( J:225597 )

• decreased

abnormal extracutaneous pigmentation ( J:225597 )

abnormal Harderian gland pigmentation ( J:225597 )

abnormal eye pigmentation ( J:225597 )

abnormal choroid pigmentation ( J:225597 )

• increased

abnormal leptomeninges pigmentation ( J:225597 )

• hyperpigmentation within the cranium due to melanocyte overgrowth within the leptomeninges

abnormal otic pigmentation ( J:225597 )

• extensive overgrowth of pigmented cells that fills the paces in the cochlea and vestibular system

abnormal melanocyte number ( J:225597 )

ectopic melanocytes ( J:225597 )

• rare melanocytic lesions on the trunk and head

• pigment cells invade the orbital-frontal cortex, cerebellum and medulla oblongata

• one mouse exhibited a large darkly pigmented lesion on the brain surface

• heavily pigmented spinal cord and meninges

• extensive overgrowth of pigmented cells that fills the paces in the cochlea and vestibular system

hyperpigmentation ( J:225597 )

• hyperpigmentation at 3 weeks of age that progresses to extremely dark skin by 3 months

• hyperpigmentation extends into the hypodermis

• the trunk dermis contains abundant melanin

• the hair follicle bulbs of the trunk and tail develop dark, ectopic pigmentation

• hyperpigmentation within the cranium due to melanocyte overgrowth within the leptomeninges

• heavily pigmented lymph nodes in the neck and trunk

increased foot pad pigmentation ( J:225597 )

increased tail pigmentation ( J:225597 )

• early stages of tail darkening

vision/eye

abnormal eye pigmentation ( J:225597 )

abnormal anterior eye segment morphology ( J:225597 )

• young mice exhibit a mass forming at the anterior of the eye

exophthalmos ( J:225597 )

• in older mice

abnormal uvea morphology ( J:225597 )

• young mice exhibit thickened uveal tract (iris, ciliary body and choroid) compared with control mice

increased intraocular melanoma incidence ( J:225597 )

• 100% penetrance of uveal melanoma at 3 months

• older mice exhibit bigger tumors that largely fill the vitreous space

abnormal choroid pigmentation ( J:225597 )

• increased

behavior/neurological

absent startle reflex ( J:225597 )

abnormal motor coordination/balance ( J:225597 )

• flipping onto the back beginning between month 1 and 3

head tilt ( J:225597 )

• beginning between month 1 and 3

head tossing ( J:225597 )

• beginning between month 1 and 3

neoplasm

increased metastatic potential ( J:225597 )

• at 3 months, most mice exhibit pigmented lesions within the lungs with intravasation into the blood vessels

• heavily pigmented lymph nodes in the neck and trunk

increased intraocular melanoma incidence ( J:225597 )

• 100% penetrance of uveal melanoma at 3 months

• older mice exhibit bigger tumors that largely fill the vitreous space

growth/size/body

thick ears ( J:225597 )

decreased body weight ( J:225597 )

• more so than Tg(Mitf-cre)7114Gsb mice

hearing/vestibular/ear

thick ears ( J:225597 )

increased or absent threshold for auditory brainstem response ( J:225597 )

• at P76

immune system

enlarged lymph nodes ( J:225597 )

• heavily pigmented and enlarged in the neck and trunk

integument

abnormal coat/hair pigmentation ( J:225597 )

• loss of hair pigmentation in 5 months with irregular deposition of pigment

dermal-epidermal separation ( J:225597 )

• separation of the dermis and epidermis at 3 weeks of age

abnormal skin pigmentation ( J:225597 )

• hyperpigmentation at 3 weeks of age that progresses to extremely dark skin by 3 months

abnormal dermal pigmentation ( J:225597 )

• the trunk dermis contains abundant melanin

abnormal epidermal pigmentation ( J:225597 )

• decreased

increased foot pad pigmentation ( J:225597 )

increased tail pigmentation ( J:225597 )

• early stages of tail darkening

limbs/digits/tail

increased foot pad pigmentation ( J:225597 )

increased tail pigmentation ( J:225597 )

• early stages of tail darkening

nervous system

abnormal spinal cord meninges morphology ( J:225597 )

• heavily pigmented spinal cord and meninges

craniofacial

thick ears ( J:225597 )

endocrine/exocrine glands

abnormal Harderian gland pigmentation ( J:225597 )

cellular

abnormal melanocyte proliferation ( J:225597 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
uveal melanoma		DOID:6039	OMIM:155720 OMIM:606660 OMIM:606661	J:225597