Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation
Copyright policy )Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation
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.
- University of Kansas United States
- University of Chicago United States
- London Health Sciences Centre Canada
- The University of Texas Health Science Center at Houston United States
- Western University Canada
Heterozygote, Genetic Linkage, Molecular Sequence Data, Nerve Tissue Proteins, Zinc Fingers, Physical Chromosome Mapping, Magnetic Resonance Imaging, Mice, Mutant Strains, Disease Models, Animal, Mice, Phenotype, Cerebellum, Animals, Humans, Chromosomes, Human, Pair 3, Chromosome Deletion, Child, Dandy-Walker Syndrome, Transcription Factors
Heterozygote, Genetic Linkage, Molecular Sequence Data, Nerve Tissue Proteins, Zinc Fingers, Physical Chromosome Mapping, Magnetic Resonance Imaging, Mice, Mutant Strains, Disease Models, Animal, Mice, Phenotype, Cerebellum, Animals, Humans, Chromosomes, Human, Pair 3, Chromosome Deletion, Child, Dandy-Walker Syndrome, Transcription Factors
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