Mouse models for the Wolf-Hirschhorn deletion syndrome

Human Molecular Genetics

Volumn 10, Issue 2, 2001, Pages 91-98

  Näf, Dieter ^a   Wilson, Lawriston A ^a   Bergstrom, Rebecca A ^a   Smith, Richard S ^a   Goodwin, Neal C ^a   Verkerk, Annemieke ^b   Van Ommen, Gert Jan ^b   Ackerman, Susan L ^a   Frankel, Wayne N ^a   Schimenti, John C ^a  

^a JACKSON LABORATORY   (United States)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BRAIN CORTEX; CEREBELLUM HYPOPLASIA; CHROMOSOME DELETION; CLONIC SEIZURE; CONTROLLED STUDY; CORNEA OPACITY; CRANIOFACIAL MALFORMATION; DISEASE PREDISPOSITION; EXPERIMENTAL MODEL; EYE MALFORMATION; FEMALE; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; GROWTH RETARDATION; HAPLOIDY; MALE; MOUSE; NONHUMAN; PALATE MALFORMATION; PHENOTYPE; PRIORITY JOURNAL; SYNTENY; WOLF HIRSCHHORN SYNDROME;

EID: 0035862798     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.2.91     Document Type: Article

References (31)

1. 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover
2. Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome
3. Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints
4. A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and Angelman syndromes
5. Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome
6. A mouse model for Prader-Willi syndrome imprinting-centre mutations
7. Congenital heart disease in mice deficient for the DiGeorge syndrome region
8. The Wolf-Hirschhorn syndrome
9. Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del(4p)]
10. A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region
11. WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma
12. Comparative analysis of a novel gene from the Wolf-Hirschhorn/Pitt-Rogers-Danks syndrome critical region
13. Synteny conservation of the Huntington's disease gene and surrounding loci on mouse Chromosome 5
14. Interdigitated deletion complexes on mouse chromosome 5 induced by irradiation of embryonic stem cells
15. Chromosomal deletion complexes in mice by radiation of embryonic stem cells
16. Natural history of Wolf-Hirschhorn syndrome: Experience with 15 cases
17. Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: Analysis of 13 patients with a de novo deletion
18. The Wolf-Hirschhorn syndrome. II. Pathologic anatomy
19. Large deletions and other gross forms of chromosome imbalance compatible with viability and fertility in the mouse
20. Disruption of the mouse necdin gene results in early post-natal lethality
21. 'Tandem' duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype
22. Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome
23. Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome
24. Preliminary phenotypic map of chromosome 4p16 based on 4p deletions
25. Wolf-Hirschhorn and Pitt-Rogers-Danks syndromes caused by overlapping 4p deletions
26. Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3
27. Electroshock
28. The gene encoding human protective protein (PPGB) is on chromosome 20
29. A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene
30. Synteny on mouse chromosome 5 of homologs for human DNA loci linked to the Huntington disease gene
31. High-resolution mapping of tlt, a mouse mutant lacking otoconia