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

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 nat...

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Bibliographic Details
Published in:Somatic cell and molecular genetics 1995-05, Vol.21 (3), p.177-187
Main Authors: Hasty, P, O'Neal, W K, Liu, K Q, Morris, A P, Bebok, Z, Shumyatsky, G B, Jilling, T, Sorscher, E J, Bradley, A, Beaudet, A L
Format: Article
Language:English
Subjects:
Animals
Base Sequence
Chlorides - metabolism
Cystic Fibrosis - genetics
Cystic Fibrosis - pathology
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
DNA
Exons
Immunohistochemistry
Intestinal Mucosa - secretion
Ion Transport
Mice
Mice, Mutant Strains
Molecular Sequence Data
Mutation
Phenotype
RNA, Messenger - genetics
RNA, Messenger - metabolism
Salivary Glands - metabolism
Terminator Regions, Genetic - genetics
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Summary: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.
ISSN:0740-7750
1572-9931
DOI:10.1007/BF02254769