Phenotypes Associated with This Genotype

Genotype
MGI:2179045

• Allelic Composition: Pten^tm1Rps/Pten⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6J

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

Gut polyps and lymphoid hyperplasia in Pten^tm1Rps/Pten⁺ mice

mortality/aging

premature death ( J:53065 )

• about 12% of older mice ranging in age from 20-56 weeks die or were sacrificed due to morbidity

neoplasm

increased tumor incidence ( J:53065 )

• neoplasms in multiple organs including the endometrium, liver, prostate, gastrointestinal tract, thyroid, and thymus

• tumors of the gastrointestinal epithelium develop in association with gut lymphoid tissue

• tumors of the endometrium, thyroid, prostate, and liver are not associated with lymphoid tissue and appear highly mitotic

• the tumors that cause morbidity include lymphomas, synchronous thyroid carcinoma, liver adenoma, poorly differentiated leukemia and teratoma

increased thyroid carcinoma incidence ( J:53065 )

• thyroid carcinoma

increased prostate intraepithelial neoplasia incidence ( J:53065 )

♂ • 3 of 8 males at 6-22 weeks of age display prostatic intraepithelial neoplasia; an additional 3 mice have foci of benign epithelial hyperplasia in the prostate

increased liver adenoma incidence ( J:53065 )

increased leukemia incidence ( J:53065 )

• poorly differentiated leukemia

increased lymphoma incidence ( J:53065 )

• lymphomas develop in 7 of 256 mice that were clinically sick

• all mutants that develop lymphoma display diffuse microscopic infiltration of all organs by atypical immature lymphoid cells

increased teratoma incidence ( J:53065 )

digestive/alimentary system

intestine polyps ( J:53065 )

• intestinal polyps are seen in all mutants from 7 to 18 weeks of age; multiple polyps frequently cluster within a single region

• most polyps are lymphoid polyps with normal epithelium; the second most frequent type of polyp is lymphoid polyps with epithelial hyperplasia

endocrine/exocrine glands

enlarged thymus ( J:53065 )

• 5 of the 7 mutants that develop lymphoma have an enlarged thymus

abnormal thyroid gland morphology ( J:53065 )

• 3 of 20 mutants at 6-22 weeks of age display follicular or papillary noninvasive neoplasia of the thyroid and an additional 3 mice have atypical epithelial changes in the thyroid

increased thyroid carcinoma incidence ( J:53065 )

• thyroid carcinoma

increased prostate intraepithelial neoplasia incidence ( J:53065 )

♂ • 3 of 8 males at 6-22 weeks of age display prostatic intraepithelial neoplasia; an additional 3 mice have foci of benign epithelial hyperplasia in the prostate

hematopoietic system

enlarged thymus ( J:53065 )

• 5 of the 7 mutants that develop lymphoma have an enlarged thymus

enlarged spleen ( J:53065 )

• all mutants that develop lymphoma have splenomegaly

• by 50 weeks of age, all females and 45% of males have splenomegaly

immune system

enlarged thymus ( J:53065 )

• 5 of the 7 mutants that develop lymphoma have an enlarged thymus

enlarged spleen ( J:53065 )

• all mutants that develop lymphoma have splenomegaly

• by 50 weeks of age, all females and 45% of males have splenomegaly

abnormal lymph node B cell domain morphology ( J:53065 )

• in the hyperplastic lymph nodes and aggregates, follicular organization is blurred with mixing of the B and T cell regions

lymph node hyperplasia ( J:53065 )

• neoplastic hyperplasia of lymph nodes caused by a defect in apoptosis in B cells and macrophages

• expansion of the interfollicular areas, medullary cords, and residual follicular and paracortical hyperplasia composed of B, T, macrophage, and fibroblast cells

reproductive system

increased prostate intraepithelial neoplasia incidence ( J:53065 )

♂ • 3 of 8 males at 6-22 weeks of age display prostatic intraepithelial neoplasia; an additional 3 mice have foci of benign epithelial hyperplasia in the prostate

endometrium hyperplasia ( J:53065 )

♀ • 100% of females aged 18-39 weeks display multifocal endometrial complex atypical hyperplasia, a lesion that is a precursor of endometrial carcinoma

growth/size/body

enlarged spleen ( J:53065 )

• all mutants that develop lymphoma have splenomegaly

• by 50 weeks of age, all females and 45% of males have splenomegaly

liver/biliary system

increased liver adenoma incidence ( J:53065 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Bannayan-Riley-Ruvalcaba syndrome		DOID:0050657	OMIM:158350	J:53065
Cowden syndrome		DOID:6457	OMIM:PS158350	J:53065