N-ethyl-N-nitrosourea

Multiple abnormalities due to a nonsense mutation in the Alx4 gene

B. Chen, Chen, L., Zhou, Y., Mi, T., Chen, D. Y., Chen, L., Yin, J., and Xue, Z. F., Multiple abnormalities due to a nonsense mutation in the Alx4 gene, vol. 12, pp. 2771-2778, 2013.

Patterning of the limb anterior-posterior axes depends on several signals that derive from the three signaling centers of the limb bud. These signals interact to constitute a complex and ordered network that critically contributes to the development of limb buds. Preaxial polydactyly in mouse is predominantly caused by ectopic expression of the zone of polarizing activity or Sonic hedgehog in the anterior region of the limb bud.

Loop-tail phenotype in heterozygous mice and neural tube defects in homozygous mice result from a nonsense mutation in the Vangl2 gene

B. Chen, Mao, H. H., Chen, L., Zhang, F. L., Li, K., and Xue, Z. F., Loop-tail phenotype in heterozygous mice and neural tube defects in homozygous mice result from a nonsense mutation in the Vangl2 gene, vol. 12, pp. 3157-3165, 2013.

N-ethyl-N-nitrosourea (ENU) is a powerful point mutagen that can generate random mutations. It has been used to generate mouse mutations to produce phenotypic models of human disease. Neural tube defects (NTD) are common birth defects in which the brain and/or spinal cord can be exposed; however, the mechanisms of these defects are poorly understood. Craniorachischisis is one type of NTD that bears a close resemblance to the phenotype of the loop-tail (Lp) mouse. Here we describe a C57BL/6J Lp mouse generated by ENU-induced mutagenesis.

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