Phenotypes Associated with This Genotype

Genotype
MGI:2179030

• Allelic Composition: Pten^tm1Mak/Pten⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

neoplasm

increased tumor incidence ( J:50437 )

• 14% develop spontaneous tumors during a 28 week observation period

increased adrenal gland tumor incidence ( J:63478 )

• 23% show marked expansion and proliferation of chromaffin cells of the adrenal medualla, consistent with medullary hyperplasia or pheochromocytoma; develop after 35 weeks of age

increased mammary gland tumor incidence ( J:63478 )

• 4% of mutants aged 26-29 weeks, 61% aged 30-49 weeks and 83% aged 50-65 weeks develop breast tumors, indicating an increased incidence of breast cancer as mice age

increased fibroadenoma incidence ( J:63478 )

• small breast tumors are classified as fibroadenoma

increased mammary adenocarcinoma incidence ( J:63478 )

• 49% of females develop breast tumors, most classified as Dunn's adenocarcinoma type C

increased prostate gland tumor incidence ( J:63478 )

♂

increased hamartoma incidence ( J:63478 )

• 9% show hamartomatous lesions involving the mucosa of the stomach, duodenum, small bowel, colon, or anorectal junction

increased leukemia incidence ( J:50437 )

• 88% of the tumors are lymphoma/leukemia of the T-cell type

increased lymphoma incidence ( J:63478 )

• older mice develop a range of lymphomas

• 18% develop malignant lymphomas

increased T cell derived lymphoma incidence ( J:50437 )

• 88% of the tumors are lymphoma/leukemia of the T-cell type

increased carcinoma incidence ( J:50437 )

• 33% of tumors are teratocarcinoma

increased endometrial carcinoma incidence ( J:63478 )

♀ • 22% of females develop endometrial carcinoma, with the earliest case found at 30 weeks of age

increased incidence of tumors by ionizing radiation induction ( J:50437 )

• 19% of gamma-irradiated mutants develop tumors compared to none of wild-type

• tumors are thymic lymphomas/leukemias

digestive/alimentary system

colon polyps ( J:50437 )

• most mice exhibit microscopic hamartomatous polyps mainly in the colon

endocrine/exocrine glands

increased adrenal gland tumor incidence ( J:63478 )

• 23% show marked expansion and proliferation of chromaffin cells of the adrenal medualla, consistent with medullary hyperplasia or pheochromocytoma; develop after 35 weeks of age

increased T cell derived lymphoma incidence ( J:50437 )

• 88% of the tumors are lymphoma/leukemia of the T-cell type

increased mammary gland tumor incidence ( J:63478 )

• 4% of mutants aged 26-29 weeks, 61% aged 30-49 weeks and 83% aged 50-65 weeks develop breast tumors, indicating an increased incidence of breast cancer as mice age

increased fibroadenoma incidence ( J:63478 )

• small breast tumors are classified as fibroadenoma

increased mammary adenocarcinoma incidence ( J:63478 )

• 49% of females develop breast tumors, most classified as Dunn's adenocarcinoma type C

increased prostate gland tumor incidence ( J:63478 )

♂

abnormal seminiferous tubule morphology ( J:50437 )

♂ • most mice exhibit focal atrophic changes in the seminiferous tubules

reproductive system

increased prostate gland tumor incidence ( J:63478 )

♂

abnormal seminiferous tubule morphology ( J:50437 )

♂ • most mice exhibit focal atrophic changes in the seminiferous tubules

increased endometrial carcinoma incidence ( J:63478 )

♀ • 22% of females develop endometrial carcinoma, with the earliest case found at 30 weeks of age

endometrium hyperplasia ( J:63478 )

♀ • all females 26 weeks of age or older show endometrial hyperplasia

immune system

increased T cell derived lymphoma incidence ( J:50437 )

• 88% of the tumors are lymphoma/leukemia of the T-cell type

enlarged Peyer's patches ( J:63478 )

• enlarged Peyer's patches composed of lymphohistiocytic infiltrates

integument

increased mammary gland tumor incidence ( J:63478 )

• 4% of mutants aged 26-29 weeks, 61% aged 30-49 weeks and 83% aged 50-65 weeks develop breast tumors, indicating an increased incidence of breast cancer as mice age

increased fibroadenoma incidence ( J:63478 )

• small breast tumors are classified as fibroadenoma

increased mammary adenocarcinoma incidence ( J:63478 )

• 49% of females develop breast tumors, most classified as Dunn's adenocarcinoma type C

hematopoietic system

increased T cell derived lymphoma incidence ( J:50437 )

• 88% of the tumors are lymphoma/leukemia of the T-cell type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Bannayan-Riley-Ruvalcaba syndrome		DOID:0050657	OMIM:158350	J:63478
Cowden syndrome		DOID:6457	OMIM:PS158350	J:63478