Generation of a Twist1 conditional null allele in the mouse

@article{Chen2007GenerationOA,
  title={Generation of a Twist1 conditional null allele in the mouse},
  author={You‐Tzung Chen and Peter O. Akinwunmi and Jian Min Deng and Oliver H. Tam and Richard R. Behringer},
  journal={genesis},
  year={2007},
  volume={45}
}
Twist1 is the mouse ortholog of TWIST1, the human gene mutated in Saethre‐Chotzen syndrome. Previously, a Twist1 null allele was generated by gene targeting in mouse embryonic stem cells. Twist1 heterozygous mice develop polydactyly and a craniofacial phenotype similar to Saethre‐Chotzen patients. Mice homozygous for the Twist1 null allele die around embryonic day 11.5 (E11.5) with cranial neural tube closure and vascular defects, hindering in vivo studies of Twist1 function at later stages of… 
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Twist1- and Twist2-Haploinsufficiency Results in Reduced Bone Formation
TLDR
It is demonstrated that Twist1- and Twist2-haploinsufficiency caused reduced bone formation due to compromised FGF signaling.
Inducible knockout of Twist1 in young and adult mice prolongs hair growth cycle and has mild effects on general health, supporting Twist1 as a preferential cancer target.
Transcriptional targets of TWIST1 in the cranial mesoderm regulate cell-matrix interactions and mesenchyme maintenance.
Dataset of TWIST1-regulated genes in the cranial mesoderm and a transcriptome comparison of cranial mesoderm and cranial neural crest
The mesenchymal architecture of the cranial mesoderm of mouse embryos is disrupted by the loss of Twist1 function.
Timed Deletion of Twist1 in the Limb Bud Reveals Age-Specific Impacts on Autopod and Zeugopod Patterning
TLDR
A novel forelimb phenotype of supernumerary pre-axial digits and enlargement or partial duplication of the distal radius was observed when Cre activity was induced in mouse embryos at different ages from embryonic (E) day 9.5 onwards.
Specific inactivation of Twist1 in the mandibular arch neural crest cells affects the development of the ramus and reveals interactions with hand2
TLDR
It appears that Twist1 is essential for the survival of the neural crest cells involved in the development of the mandibular ramal elements and ossification, which is related to molar development and cusp formation and a redundant role shared with Hand2.
Twist1 activity thresholds define multiple functions in limb development.
Intercellular Genetic Interaction Between Irf6 and Twist1 during Craniofacial Development
TLDR
Analysis of spatiotemporal expression showed that Irf6 and Twist1 are found in different cell types, and this gene-gene interaction may have implications on craniofacial disorders.
All four twist genes of zebrafish have partially redundant, but essential, roles in patterning the craniofacial skeleton
Summary Twist proteins are highly conserved transcription factors expressed in the cephalic neural crest of all vertebrates and may therefore constitute part of the molecular machinery that…
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References

SHOWING 1-10 OF 29 REFERENCES
The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome.
TLDR
It is shown here that expressivity of the mouse mutant heterozygous phenotype is dependent on the genetic background and this information might also be helpful for clinicians, since molecular defects affecting one allele of the human H-twist gene were identified in patients affected with Saethre-Chotzen syndrome.
Mutations of the mouse Twist and sy (fibrillin 2) genes induced by chemical mutagenesis of ES cells.
TLDR
Sne is a new fused phalanges (fp) allele of the shaker-with-syndactylism deletion complex (sy), and it is shown that the genomic lesion is a small deletion removing an entire exon, coincident with the insertion of the 3' end of a LINE element belonging to the TF subfamily.
Mutations of the TWIST gene in the Saethre-Chotzene syndrome
TLDR
Impairment of head mesenchyme induction by TWIST as a novel pathophysiological mechanism in human craniosynostoses is described.
twist is required in head mesenchyme for cranial neural tube morphogenesis.
TLDR
The results suggest that twist regulates the cellular phenotype and behavior of head mesenchyme cells that are essential for the subsequent formation of the cranial neural tube.
Targeted Mutagenesis of the Endogenous Mouse Mis Gene Promoter In Vivo Definition of Genetic Pathways of Vertebrate Sexual Development
Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities
TLDR
It is shown that ectopic expression of the related basic helix-loop-helix factor Hand2 phenocopies Twist1 loss of function in the limb and that the two factors have a gene dosage–dependent antagonistic interaction.
A new mouse limb mutation identifies a Twist allele that requires interacting loci on Chromosome 4 for its phenotypic expression
TLDR
The Pluridigite phenotype results from the combination of a Twist mutant allele and at least two additional loci, and it is identified that the whole Chr 4 is associated with the [Pdt] phenotype.
Mutations in TWIST, a basic helix–loop–helix transcription factor, in Saethre-Chotzen syndrome
TLDR
The emerging cascade of molecular components involved in craniofacial and limb development now includes TWIST, which may function as an upstream regulator of FGFRs, another gene family implicated in human craniosynostosis.
The Wnt-1 (int-1) proto-oncogene is required for development of a large region of the mouse brain
Twist1 dimer selection regulates cranial suture patterning and fusion
TLDR
Dimmer partner selection is identified as an important mediator of Twist1 function and provides a mechanistic understanding of craniosynostosis due to TWIST haploinsufficiency.
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