| RRC ID |
19
|
| 著者 |
Grinberg I, Northrup H, Ardinger H, Prasad C, Dobyns WB, Millen KJ.
|
| タイトル |
Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.
|
| ジャーナル |
Nat Genet
|
| Abstract |
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.
|
| 巻・号 |
36(10)
|
| ページ |
1053-5
|
| 公開日 |
2004-10-1
|
| DOI |
10.1038/ng1420
|
| PII |
ng1420
|
| PMID |
15338008
|
| MeSH |
Animals
Cerebellum / abnormalities
Child
Chromosome Deletion*
Chromosomes, Human, Pair 3 / genetics
Dandy-Walker Syndrome / genetics*
Dandy-Walker Syndrome / pathology
Disease Models, Animal
Genetic Linkage
Heterozygote
Humans
Magnetic Resonance Imaging
Mice
Mice, Mutant Strains
Molecular Sequence Data
Nerve Tissue Proteins / genetics*
Phenotype
Physical Chromosome Mapping
Transcription Factors / genetics*
Zinc Fingers / genetics
|
| IF |
27.605
|
| 引用数 |
132
|
|
WOS 分野
|
GENETICS & HEREDITY
|
| リソース情報 |
| 実験動物マウス |
RBRC00702 |
