Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development.
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ABSTRACT:
SUBMITTER: Zhou X
PROVIDER: S-EPMC1820684 | biostudies-literature | 2007 Mar
REPOSITORIES: biostudies-literature
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Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development.
Zhou Xianghua X Tian Fei F Sandzén Johan J Cao Renhai R Flaberg Emilie E Szekely Laszlo L Cao Yihai Y Ohlsson Claes C Bergo Martin O MO Borén Jan J Akyürek Levent M LM
Proceedings of the National Academy of Sciences of the United States of America 20070226 10
Mutations in filamin B (FLNB), a gene encoding a cytoplasmic actin-binding protein, have been found in human skeletal disorders, including boomerang dysplasia, spondylocarpotarsal syndrome, Larsen syndrome, and atelosteogenesis phenotypes I and III. To examine the role of FLNB in vivo, we generated mice with a targeted disruption of Flnb. Fewer than 3% of homozygous embryos reached term, indicating that Flnb is important in embryonic development. Heterozygous mutant mice were indistinguishable f ...[more]
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