Identification of a Novel ENU-Induced Mutation in Mouse Tbx1 Linked to Human DiGeorge Syndrome

Figure 1

Identification of a mutant line ENU706 by ENU-mutagenesis screening. (a) The strategy for our ENU screen on C57BL/6J mice. The male founder mouse was injected with mutagen and cross with female mice. The G1 mice were sent for phenotype screening for dominant phenotypes. (b) The family pedigree for the ENU706 line. (c) Representative image of circling behavior in a heterozygous ENU706 mouse. The syndromic traits were inherited in a dominant manner. Some of the heterozygous mutant mice showed abnormal craniofacial development including (d) elongated teeth and (e) asymmetrical face.

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