2024-03-29T10:24:57Z
https://nagoya.repo.nii.ac.jp/oai
oai:nagoya.repo.nii.ac.jp:00001367
2023-01-26T05:57:14Z
329:333:334:335
Transgenic Mice Expressing A Mutant Human GH Gene Causing Type II IGHD
OHMORI, Sachiko
3096
HAYASHI, Yoshitaka
3097
YAMAMOTO, Michiyo
3098
KAMBE, Fukushi
3099
OGAWA, Masamichi
3100
KAMIJO, Takashi
3101
SEO, Hisao
3102
transgenic mice
growth hormone (GH)
type II IGHD
2002-12
We identified several mutations in the intron 3 of human growth hormone gene I (hGH-I) in patients with isolated GH deficiency (IGHD) type II characterized by an autosomal dominant trait. The mutations result in exon 3 skipping and generation of 17 Kd mutant GH. To elucidate how the mutation causes dominant trait, transgenic mice expressing a mutant hGH gene (the first guanine to adenine transversion in intron 3: GH-I; IVS3+1: G-A) were produced in C57BL/6 strain. Genotypes of mice were identified by PCR-amplified products of tail snip DNAs. Delivery of the mutant hGH transgene into 76 fertilized eggs resulted in production of two male heterozygous transgenic mice (hGH^<+/->, the zero filial generation, FO). Since the mating of the transgenic mice with the same strain was unsuccessful, they were outcrossed with CD-I (ICR) strain. Only one mouse gave birth, producing 4 male and 7 female (F1) harboring the mutant hGH gene in one allele (hGH^<+/->). F1 mice were mated again with the wild type ICR strain, generating 82 hGH+/" mice (F2 : 51 males and 31 females). To study whether somatotrophs in F2 mice express the mutant hGH gene, RNA extracted from the pituitary was subjected to RT-PCR. It was demonstrated that the F2, hGH^<+/-> mice express the mutant hGH gene, lacking exon 3. Thus, these heterozygous mice were sib-mated to generate homozygous mice (F3). The mating resulted in 27% hGH^<-/->, 64% hGH+/ and 9% hGH^<+/+> mice, indicating that the transgene was carried stably to the descendants and did not interfere with the reproduction. These mice will be a valuable model to study how type II IGHD develops during the course of development.
国立情報学研究所で電子化したコンテンツを使用している。
departmental bulletin paper
Research Institute of Environmental Medicine, Nagoya University
2002-12
Environmental medicine : annual report of the Research Institute of Environmental Medicine, Nagoya University
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46
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http://hdl.handle.net/2237/2777
02870517
eng