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

doi:10.1677/JOE-09-0124

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 journal › Article › peer-review

Abstract

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 language	English
Pages (from-to)	133-42
Number of pages	10
Journal	Journal of Endocrinology
Volume	203
Issue number	1
DOIs	https://doi.org/10.1677/JOE-09-0124
Publication status	Published - Oct 2009

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Lemos, M. C., Harding, B., Reed, A. A. C., Jeyabalan, J., Walls, G. V., Bowl, M. R., Sharpe, J., Wedden, S., Moss, J. E., Ross, A., Davidson, D., & Thakker, R. V. (2009). Genetic background influences embryonic lethality and the occurrence of neural tube defects in Men1 null mice: relevance to genetic modifiers. Journal of Endocrinology, 203(1), 133-42. https://doi.org/10.1677/JOE-09-0124

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

abstract = "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",

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

year = "2009",

month = oct,

doi = "10.1677/JOE-09-0124",

language = "English",

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pages = "133--42",

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Lemos, MC, Harding, B, Reed, AAC, Jeyabalan, J, Walls, GV, Bowl, MR, Sharpe, J, Wedden, S, Moss, JE, Ross, A, Davidson, D & Thakker, RV 2009, 'Genetic background influences embryonic lethality and the occurrence of neural tube defects in Men1 null mice: relevance to genetic modifiers', Journal of Endocrinology, vol. 203, no. 1, pp. 133-42. https://doi.org/10.1677/JOE-09-0124

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T2 - relevance to genetic modifiers

AU - Lemos, Manuel C

AU - Harding, Brian

AU - Reed, Anita A C

AU - Jeyabalan, Jeshmi

AU - Walls, Gerard V

AU - Bowl, Michael R

AU - Sharpe, James

AU - Wedden, Sarah

AU - Moss, Julie E

AU - Ross, Allyson

AU - Davidson, Duncan

AU - Thakker, Rajesh V

PY - 2009/10

Y1 - 2009/10

N2 - 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

AB - 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

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

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