Reference SummaryDi Cristofano A, Nat Genet 1998 Aug;19(4):348-55

Title

Pten is essential for embryonic development and tumour suppression.

Authors

Di Cristofano A; Pesce B; Cordon-Cardo C; Pandolfi PP

Journal

Nat Genet

Volume

19

Issue

4

Year

1998

Pages

348-55

Abstract

The PTEN gene encodes a dual-specificity phosphatase mutated in a variety of human cancers. PTEN germline mutations are found in three related human autosomal dominant disorders, Cowden disease (CD), Lhermitte-Duclos disease (LDD) and Bannayan-Zonana syndrome (BZS), character-ized by tumour susceptibility and developmental defects. To examine the role of PTEN in ontogenesis and tumour suppression, we disrupted mouse Pten by homologous recombination. Pten inactivation resulted in early embryonic lethality. Pten-/- ES cells formed aberrant embryoid bodies and displayed an altered ability to differentiate into endodermal, ectodermal and mesodermal derivatives. Pten+/- mice and chimaeric mice derived from Pten+/- ES cells showed hyperplastic-dysplastic changes in the prostate, skin and colon, which are characteristic of CD, LDD and BZS. They also spontaneously developed germ cell, gonadostromal, thyroid and colon tumours. In addition, Pten inactivation enhanced the ability of ES cells to generate tumours in nude and syngeneic mice, due to increased anchorage-independent growth and aberrant differentiation. These results support the notion that PTEN haploinsufficiency plays a causal role in CD, LDD and BZS pathogenesis, and demonstrate that Pten is a tumour suppressor essential for embryonic development.

Links

J:49532 – MGI References
9697695 – National Library of Medicine/PubMed

Models

Strain Model Name Treatment Agent(s) Organ Affected Frequency Model Details
C57BL/6J +/+ : 129S1/Sv-Ptentm1Ppp/+ Intestine - Large Intestine - Colon adenocarcinoma - well-differentiated Intestine - Large Intestine - Colon

observed

B6;129S1-Ptentm1Ppp/+ Intestine - Large Intestine - Colon adenocarcinoma - well-differentiated Intestine - Large Intestine - Colon

observed

C57BL/6J +/+ : 129S1/Sv-Ptentm1Ppp/+ Intestine - Large Intestine hyperplasia - glandular Intestine - Large Intestine

100

B6;129S1-Ptentm1Ppp/+ Intestine - Large Intestine hyperplasia - glandular Intestine - Large Intestine

100

C57BL/6J +/+ : 129S1/Sv-Ptentm1Ppp/+ Intestine - Large Intestine polyp Intestine - Large Intestine

100

B6;129S1-Ptentm1Ppp/+ Intestine - Large Intestine polyp Intestine - Large Intestine

100

C57BL/6J +/+ : 129S1/Sv-Ptentm1Ppp/+ Leukocyte - Myelocyte (Granulocyte) leukemia - myelocytic Leukocyte - Myelocyte (Granulocyte)

observed

C57BL/6J +/+ : 129S1/Sv-Ptentm1Ppp/+ Prostate gland hyperplasia Prostate gland

100

B6;129S1-Ptentm1Ppp/+ Prostate gland hyperplasia Prostate gland

100

C57BL/6J +/+ : 129S1/Sv-Ptentm1Ppp/+ Skin - Epidermis hyperplasia Skin - Epidermis

observed

B6;129S1-Ptentm1Ppp/+ Skin - Epidermis hyperplasia Skin - Epidermis

observed

C57BL/6J +/+ : 129S1/Sv-Ptentm1Ppp/+ Testis - Germ cell teratocarcinoma Testis - Germ cell

observed

C57BL/6J +/+ : 129S1/Sv-Ptentm1Ppp/+ Testis - Leydig cell (Interstitial cell) tumor Testis - Leydig cell (Interstitial cell)

observed

C57BL/6J +/+ : 129S1/Sv-Ptentm1Ppp/+ Thyroid gland adenocarcinoma - papillary Thyroid gland

observed