A genetic mouse model carrying the nonfunctional xeroderma pigmentosum group G gene.
作者： Xue-Zhi Sun , Yoshi-Nobu Harada , Rui Zhang , Chun Cui , Sentaro Takahashi
DOI: 10.1111/J.1741-4520.2003.TB01037.X
关键词: Mutant 、 Endocrinology 、 Xeroderma pigmentosum 、 Cockayne syndrome 、 Internal medicine 、 Cerebral cortex 、 Allele 、 Gene 、 Genetics 、 Exon 、 Biology 、 Cerebellar cortex
摘要: A genetic mouse model with a disrupted XPG allele was generated by insertion of neo cassette sequences into exon 3 the gene using embryonic stem (ES) cell techniques. The xpg-deficient mice showed distinct developmental characteristics. Their body marked smaller than that in wild-type littermates since postnatal day 6, and this growth failure became more severe proceeding. life span very short, all mutants died 23 after showing great weakness emaciation. In addition, mutant homozygous also some progressive neurological signs, like lower level activity ataxia. Further examination indicated there retardation brain mice. weight, thickness cerebral cortex cerebellar were significant different from controls. These characteristics, small size brain, dysfunctions homozygotes similar to typical clinical phenotype patients Cockayne syndrome, we believe will be an animal for studying function XP-G protein nucleotide-excision repair mechanisms related clinic symptoms syndrome humans.
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