Phenotypes Associated with This Genotype

Genotype
MGI:4839497

• Allelic Composition: Pten^tm1Hwu/Pten^tm1Hwu; Vhl^tm1Jae/Vhl^tm1Jae; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129S4/SvJae * ICR

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

reproductive system

increased epididymal cystadenoma incidence ( J:137442 )

♂ • tumors contain regions of cystadenoma characterized by adenoid structures identical to human cystadenoma lesions arising in epididymides

♂ • cystadenoma display clear cell morphology

abnormal oviduct morphology ( J:137442 )

♀ • cysts and squamous epithelial hyperplasia in the oviduct

endometrium hyperplasia ( J:137442 )

♀ • females exhibit hyperplasia and full squamous differentiation of the uterine endometrial lumen, endometrial hyperplasia, and endometrial hyperplasia with cyst formation

abnormal uterine cervix squamous epithelium morphology ( J:137442 )

♀ • cysts and squamous epithelial hyperplasia in the cervix

abnormal epididymis morphology ( J:137442 )

♂ • squamous metaplasia is seen in the epididymis

♂ • vascularization is increased in the epididymides

neoplasm

increased tumor incidence ( J:137442 )

• regions of squamous differentiation intermingle with the regions of cystadenoma

• cystadenomas appear to result from basal cell proliferation without differentiation, whereas regions of squamous metaplasia contain abundant basal cells in basal layers as well as cells with markers of epidermal differentiation

increased adenoma incidence ( J:137442 )

• all mutants develop benign mixed adenosquamous genital tract tumors (in epididymis, vesicular glands, vas deferens, endometrium, and oviduct) resembling clear cell cystadenomas that form in patients with Von Hippel-Lindau syndrome (VHL)

• tumors arise simultaneously in all genital tract epithelia and show expansion of basal cells

• endometrial hyperplasia with cyst formation resembles cystadenoma and cystic lesions seen in broad ligament of females with VHL

increased epididymal cystadenoma incidence ( J:137442 )

♂ • tumors contain regions of cystadenoma characterized by adenoid structures identical to human cystadenoma lesions arising in epididymides

♂ • cystadenoma display clear cell morphology

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
von Hippel-Lindau disease		DOID:14175	OMIM:193300	J:137442