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

Figure 4

Genetic analysis of target gene in ENU706 phenotypes. (a) Whole genome sequence identified 104 SNPs in one circling ENU706 mutant mouse, among which 93 SNPs were heterozygous and 85 SNPs were exonic. (b) Top 3 candidate genes were Tbx1, Bmp7, and Slc38a1. The T-to-C mutation in Tbx1 had the high penetration in ENU706 heterozygous mice with the circling phenotype. (c) The genotyping for the T-to-C mutation in Tbx1 showed there were 24 heterozygous mice out of all the 44 mice in this colony. And phenotypic assays showed 21 ENU706 heterozygous mice were circling and 20 ENU706 heterozygous mice had elevated ABR in all the 24 Tbx1+/− mice. (d) A typical DNA chromatogram showing the T-to-C mutation in an ENU706 heterozygous mouse. Note a reverse primer was used for sequencing. refers to the T-to-C mutation.

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