Malignant autosomal recessive osteopetrosis caused by spontaneous mutation of murine Rank

被引：28

作者：

Kapur, RP

Yao, ZQ

Iida, MHK

Clarke, CM

Doggett, B

Xing, LP

Boyce, BF

机构：

[1] Univ Washington, Dept Labs, Dept Pathol, Childrens Hosp & Med Ctr, Seattle, WA 98105 USA

[2] Univ Rochester, Med Ctr, Dept Pathol & Lab Med, Rochester, NY USA

来源：

JOURNAL OF BONE AND MINERAL RESEARCH | 2004年 / 19卷 / 10期

关键词：

osteopetrosis; osteoclast; RANK; rodent; mutation;

D O I：

10.1359/JBMR.040713

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We report the first case of lethal autosomal recessive osteopetrosis in mice caused by a spontaneous 8-bp deletion in exon 2 of the Rank gene. The phenotype, including a block in RANKL-dependent osteoclast differentiation and lymph node agenesis, copies that of Rank(-/-) mice, which have been produced by targeted recombination.

引用

页码：1689 / 1697

页数：9

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