RET-deficient mice

An animal model for Hirschsprung's disease and renal agenesis

A. Schuchardt, V. D'Agati, L. Larsson-Blomberg, F. Costantini, V. Pachnis

Research output: Contribution to journalArticle

42 Citations (Scopus)

Abstract

Receptor tyrosine kinases play a critical role in transducing signals involved in cell growth and differentiation. The c-ret proto-oncogene is a member of the receptor tyrosine kinase gene superfamily originally identified by its transforming ability. Somatic mutations of c-ret are responsible for a large proportion of thyroid papillary carcinomas, while germ-line mutations are responsible for multiple endocrine neoplasia types 2A and 2B, dominantly inherited cancer syndromes characterized by multiple tumours of neuroectodermal origin. In addition to its role in tumour formation, c-ret is thought to have a developmental role since mutations of the gene have been implicated in the aetiology of Hirschsprung's syndrome (congenital megacolon). A targeted mutation in the murine c-ret locus shows that the ret receptor is required for normal development of two lineally unrelated systems, the excretory system and the enteric nervous system.

Original languageEnglish (US)
Pages (from-to)327-332
Number of pages6
JournalJournal of Internal Medicine
Volume238
Issue number4
DOIs
StatePublished - Jan 1 1995

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Hirschsprung Disease
Animal Models
Receptor Protein-Tyrosine Kinases
Mutation
Multiple Endocrine Neoplasia Type 2b
Neuroectodermal Tumors
Multiple Endocrine Neoplasia Type 2a
Enteric Nervous System
Proto-Oncogenes
Germ-Line Mutation
Genes
Cell Differentiation
Neoplasms
Growth
Hereditary renal agenesis

Cite this

RET-deficient mice : An animal model for Hirschsprung's disease and renal agenesis. / Schuchardt, A.; D'Agati, V.; Larsson-Blomberg, L.; Costantini, F.; Pachnis, V.

In: Journal of Internal Medicine, Vol. 238, No. 4, 01.01.1995, p. 327-332.

Research output: Contribution to journalArticle

Schuchardt, A. ; D'Agati, V. ; Larsson-Blomberg, L. ; Costantini, F. ; Pachnis, V. / RET-deficient mice : An animal model for Hirschsprung's disease and renal agenesis. In: Journal of Internal Medicine. 1995 ; Vol. 238, No. 4. pp. 327-332.
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