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The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus.

Cell | Jun 12, 1998

http://www.ncbi.nlm.nih.gov/pubmed/9635428

Mf1 encodes a forkhead/winged helix transcription factor expressed in many embryonic tissues, including prechondrogenic mesenchyme, periocular mesenchyme, meninges, endothelial cells, and kidney. Homozygous null Mf1lacZ mice die at birth with hydrocephalus, eye defects, and multiple skeletal abnormalities identical to those of the classical mutant, congenital hydrocephalus. We show that congenital hydrocephalus involves a point mutation in Mf1, generating a truncated protein lacking the DNA-binding domain. Mesenchyme cells from Mf1lacZ embryos differentiate poorly into cartilage in micromass culture and do not respond to added BMP2 and TGFbeta1. The differentiation of arachnoid cells in the mutant meninges is also abnormal. The human Mf1 homolog FREAC3 is a candidate gene for ocular dysgenesis and glaucoma mapping to chromosome 6p25-pter, and deletions of this region are associated with multiple developmental disorders, including hydrocephaly and eye defects.

Pubmed ID: 9635428 RIS Download

Mesh terms: Amino Acid Sequence | Animals | Arachnoid | Bone Morphogenetic Protein 2 | Bone Morphogenetic Proteins | Bone and Bones | Cartilage | Cell Differentiation | Cells, Cultured | Chromosome Mapping | Chromosomes, Human, Pair 6 | DNA-Binding Proteins | Eye | Forkhead Transcription Factors | Genes, Regulator | Humans | Hydrocephalus | Mesoderm | Mice | Mice, Knockout | Mice, Neurologic Mutants | Molecular Sequence Data | Point Mutation | Transcription Factors | Transforming Growth Factor beta

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Associated grants

  • Agency: NCI NIH HHS, Id: CA68485

Mouse Genome Informatics (Data, Gene Annotation)

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