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Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.

Nature genetics | Oct 29, 2004

http://www.ncbi.nlm.nih.gov/pubmed/15338008

Dandy-Walker malformation (DWM; OMIM #220200) is a common but poorly understood congenital cerebellar malformation in humans. Through physical mapping of 3q2 interstitial deletions in several individuals with DWM, we defined the first critical region associated with DWM, encompassing two adjacent Zinc finger in cerebellum genes, ZIC1 and ZIC4. Mice with a heterozygous deletion of these two linked genes have a phenotype that closely resembles DWM, providing a mouse model for this malformation.

Pubmed ID: 15338008 RIS Download

Mesh terms: Animals | Cerebellum | Child | Chromosome Deletion | Chromosomes, Human, Pair 3 | Dandy-Walker Syndrome | Disease Models, Animal | Genetic Linkage | Heterozygote | Humans | Magnetic Resonance Imaging | Mice | Mice, Mutant Strains | Molecular Sequence Data | Nerve Tissue Proteins | Phenotype | Physical Chromosome Mapping | Transcription Factors | Zinc Fingers

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Mouse Genome Informatics (Data, Gene Annotation)

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