Identification of a Van der Woude syndrome mutation in the cleft palate 1 mutant mouse
Copyright policy )Identification of a Van der Woude syndrome mutation in the cleft palate 1 mutant mouse
AbstractMutations in Interferon Regulatory Factor 6 (IRF6) have been identified in two human allelic syndromes with cleft lip and/or palate: Van der Woude (VWS) and Popliteal Pterygium syndromes (PPS). Furthermore, common IRF6 haplotypes and single nucleotide polymorphisms (SNP) alleles are strongly associated with nonsyndromic clefting defects in multiple ethnic populations. Mutations in the mouse often provide good models for the study of human diseases and developmental processes. We identified the cleft palate 1 (clft1) mouse mutant in a forward genetic screen for phenotypes modeling human congenital disease. In the clft1 mutant, we have identified a novel missense point mutation in the mouse Irf6 gene, which confers an amino acid alteration that has been found in a VWS family. Phenotypic comparison of clft1 mutants to previously reported Irf6 mutant alleles demonstrates the Irf6clft1 allele is a hypomorphic allele. The cleft palate seen in these mutants appears to be due to abnormal adhesion between the palate and tongue. The Irf6clft1 allele provides the first mouse model for the study of an etiologic IRF6 missense mutation observed in a human VWS family. genesis 48:303–308, 2010. © 2010 Wiley‐Liss, Inc.
- Harvard University United States
- Brigham and Women's Faulkner Hospital United States
Sequence Homology, Amino Acid, Reverse Transcriptase Polymerase Chain Reaction, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, Gene Expression Regulation, Developmental, Mice, Inbred Strains, Syndrome, Embryo, Mammalian, Hindlimb, Cleft Palate, Disease Models, Animal, Mice, Interferon Regulatory Factors, Animals, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Alleles
Sequence Homology, Amino Acid, Reverse Transcriptase Polymerase Chain Reaction, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, Gene Expression Regulation, Developmental, Mice, Inbred Strains, Syndrome, Embryo, Mammalian, Hindlimb, Cleft Palate, Disease Models, Animal, Mice, Interferon Regulatory Factors, Animals, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Alleles
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).13 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Average influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Average impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Top 10%
Citations provided by BIP!Popularity provided by BIP!