scholarly journals Dysgenesis of cephalic neural crest derivatives in Pax7−/− mutant mice

Development ◽  
1996 ◽  
Vol 122 (3) ◽  
pp. 831-838 ◽  
Author(s):  
A. Mansouri ◽  
A. Stoykova ◽  
M. Torres ◽  
P. Gruss

Pax7 is a member of the paired box containing gene family. Its expression pattern suggests a function in cephalic neural crest derivatives, skeletal muscle and central nervous system development. To understand the role of Pax7 during mouse embryogenesis, we used the homologous recombination technique in embryonic stem cells and generated Pax7−/− mice. Homozygous animals are born but die shortly afer weaning. They exhibit malformations in facial structures involving the maxilla and nose. Our analysis suggests that the observed phenotype is due to a cephalic neural crest defect. No obvious phenotype could be detected in the central nervous system and skeletal muscle. Functional redundancy between Pax7 and Pax3 is discussed.

2005 ◽  
Vol 25 (16) ◽  
pp. 7193-7202 ◽  
Author(s):  
Melinda K. Pirity ◽  
Joseph Locker ◽  
Nicole Schreiber-Agus

ABSTRACT The Rybp/DEDAF protein has been implicated in both transcriptional regulation and apoptotic signaling, but its precise molecular function is unclear. To determine the physiological role of Rybp, we analyzed its expression during mouse development and generated mice carrying a targeted deletion of Rybp using homologous recombination in embryonic stem cells. Rybp was found to be broadly expressed during embryogenesis and was particularly abundant in extraembryonic tissues, including trophoblast giant cells. Consistent with this result, rybp homozygous null embryos exhibited lethality at the early postimplantation stage. At this time, Rybp was essential for survival of the embryo, for the establishment of functional extraembryonic structures, and for the execution of full decidualization. Through the use of a chimeric approach, the embryonic lethal phenotype was circumvented and a role for Rybp in central nervous system development was uncovered. Specifically, the presence of Rybp-deficient cells resulted in marked forebrain overgrowth and in localized regions of disrupted neural tube closure. Functions for Rybp in the brain also were supported by the finding of exencephaly in about 15% of rybp heterozygous mutant embryos, and by Rybp's distinct neural expression pattern. Together, these findings support critical roles for Rybp at multiple stages of mouse embryogenesis.


2001 ◽  
Vol 199 (1-2) ◽  
pp. 219-219
Author(s):  
M. CHEUNG ◽  
M. TAHMASEB ◽  
D. LeROUEDEC ◽  
M. ABU-ELMAGD ◽  
P. J. SCOTTING

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