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. 2016 Aug 18;7:12444. doi: 10.1038/ncomms12444

Table 2. Summary of output from the ENU screen including number of pedigrees analysed along with mutant discovery and mutations cloned.

  Total Early Late      
Pedigrees 157      
Active pedigrees 23      
Pedigrees with phenotypes 72 58 26      
Number of mutants 105 78 27      
Mapped mutations 81 58 23      
Cloned mutations 44 32 12 Missense Stop gained Splice mutant
        19*/9 10/1 3/2

IAP, intracisternal A-particle.

One late and one early mutation result in an amino acid change but also affect splicing. Early phenotypes were defined as those identified in the first rounds of screening before 6 months of age, with late phenotypes being those detected after this time.

*Note that one mutation is the result of a spontaneous IAP insertion that appears to have occurred on the C3H background.