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.