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Phenotypes Associated with This Genotype
Genotype
MGI:5702873
Allelic
Composition
Gt(ROSA)26Sortm1(GNAQ*)Cvr/Gt(ROSA)26Sor+
Tg(Mitf-cre)7114Gsb/0
Genetic
Background
C3FeJ.Cg-Gt(ROSA)26Sortm1(GNAQ*)Cvr Tg(Mitf-cre)7114Gsb
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1(GNAQ*)Cvr mutation (0 available); any Gt(ROSA)26Sor mutation (392 available)
Tg(Mitf-cre)7114Gsb mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• loss of hair pigmentation in 5 months with irregular deposition of pigment
• hyperpigmentation at 3 weeks of age that progresses to extremely dark skin by 3 months
• the trunk dermis contains abundant melanin
• hyperpigmentation within the cranium due to melanocyte overgrowth in within the leptomeninges
• extensive overgrowth of pigmented cells that fills the paces in the cochlea and vestibular system
• 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 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
• early stages of tail darkening

vision/eye
• 100% penetrance of uveal melanoma at 3 months
• older mice exhibit bigger tumors that largely fill the vitreous space
• young mice exhibit a mass forming at the anterior of the eye
• in older mice
• young mice exhibit thickened uveal tract (iris, ciliary body and choroid) compared with control mice

behavior/neurological
• flipping onto the back beginning between month 1 and 3
• beginning between month 1 and 3
• beginning between month 1 and 3

neoplasm
• 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
• 100% penetrance of uveal melanoma at 3 months
• older mice exhibit bigger tumors that largely fill the vitreous space

growth/size/body
• more so than Tg(Mitf-cre)7114Gsb mice

hearing/vestibular/ear

immune system
• heavily pigmented and enlarged in the neck and trunk

integument
• loss of hair pigmentation in 5 months with irregular deposition of pigment
• separation of the dermis and epidermis at 3 weeks of age
• hyperpigmentation at 3 weeks of age that progresses to extremely dark skin by 3 months
• the trunk dermis contains abundant melanin
• early stages of tail darkening

limbs/digits/tail
• early stages of tail darkening

nervous system
• heavily pigmented spinal cord and meninges

craniofacial

endocrine/exocrine glands

cellular

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/05/2017
MGI 6.11
The Jackson Laboratory