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Table 2 Mutation spectra in the offspring and somatic tissues of ENU-treated mice

From: Estimation of the frequency of inherited germline mutations by whole exome sequencing in ethyl nitrosourea-treated and untreated gpt delta mice

    Control   ENU
    NGS (this study)   NGS (this study)   Genome-wide screening1a   Transgenic reporter gene mutation assays Endogenous gene mutation assays
Target sequences    Whole exome   Whole exome   63 loci (197 Mb)   gpt (this study)   gpt 2   lacZ 3   lacZ 4   lacI 5   Hprt (cDNA)6   Hprt (exon 3)7  
Target tissues    Offspring Offspring Offspring Sperm Bone marow Liver Bone marrow Splenic lymphocytes Splenic lymphocytes Splenic lymphocytes
Mutations    No. % No. % No. % No. % No. % No. % No. % No. % No. % No. %
Base substitution                       
  Transition                       
   G:C to A:T 1 33.3 21 17.1 32 22.4 11 22.4 17 28.3 6 24.0 7 35.0 13 29.5 4 12.9 2 3.9
   A:T to G:C 1 33.3 52 42.3 53 37.1 8 16.3 12 20.0 1 4.0 2 10.0 10 22.7 7 22.6 14 27.5
  Transversion                       
   G:C to T:A 0 0.0 12 9.8 13 9.1 7 14.3 9 15.0 6 24.0 4 20.0 4 9.1 1 3.2 1 2.0
   G:C to C:G 0 0.0 0 0.0 1 0.7 1 2.0 0 0.0 0 0.0 0 0.0 1 2.3 1 3.2 0 0.0
   A:T to T:A 0 0.0 33 26.8 35 24.5 17 34.7 17 28.3 7 28.0 6 30.0 10 22.7 13 41.9 28 54.9
   A:T to C:G 0 0.0 5 4.1 8 5.6 4 8.2 3 5.0 3 12.0 0 0.0 4 9.1 5 16.1 6 11.8
Deletion    1 33.3 0 0.0 1 0.7 1 2.0 2 3.3 1 4.0 1 5.0 1 2.3 0 0.0 0 0.0
Insertion    0 0.0 0 0.0 0 0.0 0 0.0 0 0.0 1 4.0 0 0.0 1 2.3 0 0.0 0 0.0
Total    3 100 123 100 143 100 49 100 60 100 25 100 20 100 44 100 31 100 51 100
  1. 1Male F1 mice by crossing C57BL/6 × DBA/2 or C3H/He [12]
  2. 2Male BDF1 gpt delta mice [10]
  3. 3Female CD2F1 MutaTM mice [17]
  4. 4Male CD2F1 MutaTM mice [18]
  5. 5Male B6C3F1 Big Blue® mice [19]
  6. 6C57BL/6 mice [30]
  7. 7Male B6C3F1 mice [19]
  8. aTemperature gradient capillary electrophoresis (TGCE) and Sanger sequencing methods
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Genes and Environment

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