Severe phenotype in mice with termination mutation in exon 2 of cystic fibrosis gene

Paul Hasty; Wanda K. O'Neal; Karen Qianye Liu; Andrew P. Morris; Zsuzsa Bebok; Gleb B. Shumyatsky; Tamas Jilling; Eric J. Sorscher; Allan Bradley; Arthur L. Beaudet

doi:10.1007/BF02254769

Severe phenotype in mice with termination mutation in exon 2 of cystic fibrosis gene

Paul Hasty, Wanda K. O'Neal, Karen Qianye Liu, Andrew P. Morris, Zsuzsa Bebok, Gleb B. Shumyatsky, Tamas Jilling, Eric J. Sorscher, Allan Bradley, Arthur L. Beaudet

Barshop Institute

Research output: Contribution to journal › Article › peer-review

35 Scopus citations

Abstract

Mice with a termination codon mutation in exon 2 of the cystic fibrosis (CF) gene were generated using homologous recombination in embryonic stem cells. Animals homozygous for the mutant allele display a severe intestinal phenotype similar to that previously reported for CF mutant mice. The null nature of this allele was demonstrated by the absence of detectable wild-type mRNA, by the absence of detectable CFTR in the serous gland collecting ducts of salivary tissues, and by the lack of cAMP-mediated short-circuit current responses in colonic epithelium of mutant animals.

Original language	English (US)
Pages (from-to)	177-187
Number of pages	11
Journal	Somatic Cell and Molecular Genetics
Volume	21
Issue number	3
DOIs	https://doi.org/10.1007/BF02254769
State	Published - May 1995

ASJC Scopus subject areas

Genetics
Cell Biology

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title = "Severe phenotype in mice with termination mutation in exon 2 of cystic fibrosis gene",

abstract = "Mice with a termination codon mutation in exon 2 of the cystic fibrosis (CF) gene were generated using homologous recombination in embryonic stem cells. Animals homozygous for the mutant allele display a severe intestinal phenotype similar to that previously reported for CF mutant mice. The null nature of this allele was demonstrated by the absence of detectable wild-type mRNA, by the absence of detectable CFTR in the serous gland collecting ducts of salivary tissues, and by the lack of cAMP-mediated short-circuit current responses in colonic epithelium of mutant animals.",

author = "Paul Hasty and O'Neal, {Wanda K.} and Liu, {Karen Qianye} and Morris, {Andrew P.} and Zsuzsa Bebok and Shumyatsky, {Gleb B.} and Tamas Jilling and Sorscher, {Eric J.} and Allan Bradley and Beaudet, {Arthur L.}",

year = "1995",

month = may,

doi = "10.1007/BF02254769",

language = "English (US)",

volume = "21",

pages = "177--187",

journal = "Somatic Cell and Molecular Genetics",

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T1 - Severe phenotype in mice with termination mutation in exon 2 of cystic fibrosis gene

AU - Hasty, Paul

AU - O'Neal, Wanda K.

AU - Liu, Karen Qianye

AU - Morris, Andrew P.

AU - Bebok, Zsuzsa

AU - Shumyatsky, Gleb B.

AU - Jilling, Tamas

AU - Sorscher, Eric J.

AU - Bradley, Allan

AU - Beaudet, Arthur L.

PY - 1995/5

Y1 - 1995/5

N2 - Mice with a termination codon mutation in exon 2 of the cystic fibrosis (CF) gene were generated using homologous recombination in embryonic stem cells. Animals homozygous for the mutant allele display a severe intestinal phenotype similar to that previously reported for CF mutant mice. The null nature of this allele was demonstrated by the absence of detectable wild-type mRNA, by the absence of detectable CFTR in the serous gland collecting ducts of salivary tissues, and by the lack of cAMP-mediated short-circuit current responses in colonic epithelium of mutant animals.

AB - Mice with a termination codon mutation in exon 2 of the cystic fibrosis (CF) gene were generated using homologous recombination in embryonic stem cells. Animals homozygous for the mutant allele display a severe intestinal phenotype similar to that previously reported for CF mutant mice. The null nature of this allele was demonstrated by the absence of detectable wild-type mRNA, by the absence of detectable CFTR in the serous gland collecting ducts of salivary tissues, and by the lack of cAMP-mediated short-circuit current responses in colonic epithelium of mutant animals.

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Severe phenotype in mice with termination mutation in exon 2 of cystic fibrosis gene

Abstract

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