A Sall4 mutant mouse model useful for studying the role of Sall4 in early embryonic development and organogenesis

Genesis (United States)

Volumn 45, Issue 1, 2007, Pages 51-58

  Warren, Madhuri ^a,b   Wang, Wei ^a   Spiden, Sarah ^a   Chen Murchie, Dongrong ^a   Tannahill, David ^a   Steel, Karen P ^a   Bradley, Allan ^a  

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Bacterial recombineering; Embryonic stem cells; Mouse; Okihiro syndrome; Organogenesis; Sall4

Indexed keywords

TRANSCRIPTION FACTOR; ZINC FINGER PROTEIN;

ANENCEPHALUS; ANIMAL TISSUE; ARTICLE; BONE DEFECT; BRAIN DEVELOPMENT; CELL PROLIFERATION; CONDUCTION DEAFNESS; CONTROLLED STUDY; DROSOPHILA; DUANE RETRACTION SYNDROME; EMBRYO; EMBRYO DEVELOPMENT; FEMALE; GENE; GENE MUTATION; GENE TARGETING; GENITAL MALFORMATION; GENOTYPE; HEART DEVELOPMENT; HIRSCHSPRUNG DISEASE; HISTOPATHOLOGY; HOMOZYGOSITY; IN SITU HYBRIDIZATION; INNER CELL MASS; KIDNEY DEVELOPMENT; KIDNEY HYPOPLASIA; LETHALITY; LIMB DEVELOPMENT; MALE; MOUSE; NONHUMAN; NULL ALLELE; OKIHIRO SYNDROME; ORGANOGENESIS; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SALL4 GENE; SCANNING ELECTRON MICROSCOPY; SPALT GENE; TRANSCRIPTION REGULATION;

BACTERIA (MICROORGANISMS); MURINAE; MUS;

EID: 33846809132     PISSN: 1526954X     EISSN: 1526968X     Source Type: Journal    
DOI: 10.1002/dvg.20264     Document Type: Article

References (25)

1. Abuin A, Bradley A. 1996. Recycling selectable markers in mouse embryonic stem cells. Mol Cell Biol 16:1851-1856.
2. Al-Baradie R, Yamada K, St Hilaire C, Chan WM, Andrews C, McIntosh N, Nakano M, Martonyi EJ, Raymond WR, Okumura S, Okihiro MM, Engle EC. 2002. Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. Am J Hum Genet 71:1195-1199.
3. Bancroft JD. 2002. Enzyme histochemistry and its diagnostic applications. In: Bancroft JD, Gamble M, editors. Theory and practice of histological techniques. New York: Churchill Livingstone. pp 593-621.
4. Borozdin W, Boehm D, Leipoldt M, Wilhelm C, Reardon W, Clayton-Smith J, Becker K, Muhlendyck H, Winter R, Giray O, Silan F, Kohlhase J. 2004. SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism. J Med Genet 41:e113.
5. de Celis JF, Barrio R, Kafatos FC. 1996. A gene complex acting downstream of dpp in Drosophila wing morphogenesis. Nature 381: 421-424.
6. de Celis JF, Barrio R, Kafatos FC. 1999. Regulation of the spalt/spalt-related gene complex and its function during sensory organ development in the Drosophila thorax. Development 126:2653-2662.
7. Hunter-Duvar IM, Mount RJ. 1978. A technique for preparation of large cochlear specimens for assessment with the transmission electron microscope. Acta Otolaryngol Suppl 351:33-44.
8. Inouye M, Murakami U. 1976. Teratogenic effect of N-methyl- N′-nitro-N-nitrosoguanidine in mice [proceedings]. Mutat Res 38:337-338.
9. Jurgens G. 1988. Head and tail development of the Drosophila embryo involves spalt, a novel homeotic gene. EMBO J 7:189-196.
10. Kiefer SM, Ohlemiller KK, Yang J, McDill BW, Kohlhase J, Rauchman M. 2003. Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects. Hum Mol Genet 12:2221-2227.
11. Kohlhase J. 2000. SALL1 mutations in Townes-Brocks syndrome and related disorders. Hum Mutat 16:460-466.
12. Kohlhase J, Chitayat D, Kotzot D, Ceylaner S, Froster UG, Fuchs S, Montgomery T, Rosler B. 2005. SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. Hum Mutat 26:176-183.
13. Kohlhase J, Heinrich M, Liebers M, Frohlich Archangelo L, Reardon W, Kispert A. 2002a. Cloning and expression analysis of SALL4, the murine homologue of the gene mutated in Okihiro syndrome. Cytogenet Genome Res 98:274-277.
14. Kohlhase J, Heinrich M, Schubert L, Liebers M, Kispert A, Laccone F, Turnpenny P, Winter RM, Reardon W. 2002b. Okihiro syndrome is caused by SALL4 mutations. Hum Mol Genet 11:2979-2987.
15. Kohlhase J, Schuh R, Dowe G, Kuhnlein RP, Jackle H, Schroeder B, Schulz-Schaeffer W, Kretzschmar HA, Kohler A, Muller U, Raab-Vetter M, Burkhardt E, Engel W, Stick R. 1996. Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt. Genomics 38:291-298.
16. Koshiba-Takeuchi K, Takeuchi JK, Arruda EP, Kathiriya IS, Mo R, Hui CC, Srivastava D, Bruneau BG. 2006. Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart. Nat Genet 38:175-183.
17. Kuhnlein RP, Frommer G, Friedrich M, Gonzalez-Gaitan M, Weber A, Wagner-Bernholz JF, Gehring WJ, Jackle H, Schuh R. 1994. spalt Encodes an evolutionarily conserved zinc finger protein of novel structure which provides homeotic gene function in the head and tail region of the Drosophila embryo. EMBO J 13:168-179.
18. Liu P, Jenkins NA, Copeland NG. 2003. A highly efficient recombineering-based method for generating conditional knockout mutations. Genome Res 13:476-484.
19. Miertus J, Borozdin W, Frecer V, Tonini G, Bertok S, Amoroso A, Miertus S, Kohlhase J. 2006. A SALL4 zinc finger mis-sense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome. Hum Genet 119:154-161.
20. Okihiro MM, Tasaki T, Nakano KK, Bennett BK. 1977. Duane syndrome and congenital upper-limb anomalies. A familial occurrence. Arch Neurol 34:174-179.
21. Osoegawa K, Tateno M, Woon PY, Frengen E, Mammoser AG, Catanese JJ, Hayashizaki Y, de Jong PJ. 2000. Bacterial artificial chromosome libraries for mouse sequencing and functional analysis. Genome Res 10:116-128.
22. Powell CM, Michaelis RC. 1999. Townes-Brocks syndrome. J Med Genet 36:89-93.
23. Ramirez-Solis R, Davis AC, Bradley A. 1993. Gene targeting in embryonic stem cells. Methods Enzymol 225:855-878.
24. Sakaki-Yumoto M, Kobayashi C, Sato A, Fujimura S, Matsumoto Y, Takasato M, Kodama T, Aburatani H, Asashima M, Yoshida N, Nishinakamura R. 2006. The murine homolog of SALL4, a causative gene in Okihiro syndrome, is essential for embryonic stem cell proliferation, and cooperates with Sall1 in anorectal, heart, brain and kidney development. Development 133:3005-3013.
25. Steel KP, Smith RJ. 1992. Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome type 1. Nat Genet 2:75-79.