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Article (Scientific journals)
Targeted disruption of Pax1 defines its null phenotype and proves haploinsufficiency.
Wilm, B.; Dahl, E.; Peters, H. et al.
1998In Proceedings of the National Academy of Sciences of the United States of America, 95 (15), p. 8692-7
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Keywords :
Animals; Base Sequence; Bone and Bones/abnormalities; DNA Primers; DNA-Binding Proteins/genetics; Gene Deletion; Haplotypes; Heterozygote; Homozygote; Mice; Mice, Knockout; Paired Box Transcription Factors; Phenotype; Transcription Factors/genetics
Abstract :
[en] The murine paired box-containing gene Pax1 is required for normal development of the vertebral column, the sternum, and the scapula. Previous studies have shown that three natural Pax1 mouse mutants, the undulated alleles, exhibit phenotypes of different severity in these skeletal elements. Nevertheless, these analyses have not clarified whether the semidominant Undulated short-tail (Uns) mutation, in which the complete Pax1 locus is deleted, represents a null allele. Moreover, the analyses of the classical undulated mutants did not allow a conclusion with respect to haploinsufficiency of Pax1. To address both questions we have created a Pax1 null allele in mice by gene targeting. Surprisingly, the phenotype of this defined mutation exhibits clear differences to that of Uns. This result strongly indicates the contribution of additional gene(s) to the Uns mutant phenotype. Furthermore, the phenotype of mice heterozygous for the null allele demonstrates that Pax1 is haploinsufficient in some though not all skeletal elements which express Pax1 during embryonic development.
Disciplines :
Genetics & genetic processes
Author, co-author :
Wilm, B.
Dahl, E.
Peters, H.
Balling, Rudi 
Imai, K.
Language :
English
Title :
Targeted disruption of Pax1 defines its null phenotype and proves haploinsufficiency.
Publication date :
1998
Journal title :
Proceedings of the National Academy of Sciences of the United States of America
ISSN :
1091-6490
Publisher :
National Academy of Sciences, Washington, United States - District of Columbia
Volume :
95
Issue :
15
Pages :
8692-7
Peer reviewed :
Peer Reviewed verified by ORBi
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