Genetic background influences embryonic lethality and the occurrence of neural tube defects in Men1 null mice: relevance to genetic modifiers

Manuel C Lemos, Brian Harding, Anita A C Reed, Jeshmi Jeyabalan, Gerard V Walls, Michael R Bowl, James Sharpe, Sarah Wedden, Julie E Moss, Allyson Ross, Duncan Davidson, Rajesh V Thakker

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

Germline mutations of the multiple endocrine neoplasia type 1 (MEN1) gene cause parathyroid, pancreatic and pituitary tumours in man. MEN1 mutations also cause familial isolated primary hyperparathyroidism (FIHP) and the same MEN1 mutations, in different families, can cause either FIHP or MEN1. This suggests a role for genetic background and modifier genes in altering the expression of a mutation. We investigated the effects of genetic background on the phenotype of embryonic lethality that occurs in a mouse model for MEN1. Men1(+/-) mice were backcrossed to generate C57BL/6 and 129S6/SvEv incipient congenic strains, and used to obtain homozygous Men1(-/-) mice. No viable Men1(-/-) mice were obtained. The analysis of 411 live embryos obtained at 9.5-16.5 days post-coitum (dpc) revealed that significant deviations from the expected Mendelian 1:2:1 genotype ratio were first observed at 12.5 and 14.5 dpc in the 129S6/SvEv and C57BL/6 strains respectively (P
Original languageEnglish
Pages (from-to)133-42
Number of pages10
JournalJournal of Endocrinology
Volume203
Issue number1
DOIs
Publication statusPublished - Oct 2009

Fingerprint

Dive into the research topics of 'Genetic background influences embryonic lethality and the occurrence of neural tube defects in Men1 null mice: relevance to genetic modifiers'. Together they form a unique fingerprint.

Cite this