We note that the two metrics specificity and sensitivity in this figure represent the fraction of correctly predicted lethal and viable mutants, respectively.
Using data from the Mouse Genome Database (Bult et al. 2008) ("MRK_Ensembl_Pheno.rpt" file downloaded on October 7, 2010), we classified genes as essential and nonessential when described to be lethal and viable when knocked out in mice, respectively.
In the analysis of iMM904, the statistical classification function, specificity and sensitivity, were employed in the analysis of the essentiality simulation to represent the proportion of negative and positive (lethal and viable) phenotypes correctly predicted as negative and positive, respectively (Table 1).
Previous work with lethal and viable itpr mutant combinations has demonstrated a significant rescue of their phenotypes by expression of an itpr+ cDNA transgene in Drosophila insulin-like peptide (DILP -producing neurons of the brain (insulin-proDILP -producingPCs) (Agrawal et al., 2009; Agrawal et al., 2010).
A variety of cilia-based defects underlie both embryonic lethal and adult viable human syndromes, including Jeune syndrome (JS), Meckel-Grüber syndrome (MKS), Joubert syndrome (JBTS), short-rib polydactyly syndrome (SRPS), Bardet-Biedl syndrome (BBS) and Alström syndrome (ALS).
Both fully lethal and sub-viable strains can be flagged for embryonic lethal phenotyping, depending on the centres involved.
Three viable insertions in 14-3-3epsilon 14-3-3epsilon 14-3-3epsilondulin (one lethandand one viable) are found enriched in centwosomes.
In contrast to what is expected for a loss-of-function mutation in a gene thought to be involved in fundamental cellular processes, complete removal of maternal (data not shown) and zygotic dGPHR function is not fully lethal and can generate viable flies.
They range from broad phenotype categories such as "sterile", "slow_growth", or "larval_arrest" in worms and "viable", "lethal" and "fertile" in flies; to narrow phenotypic descriptors such as "flaccid", "DNA_synthesis_variant" or "no_posterior_pharynx" in worms and "ejaculatory_bulb", "dorsal_vessel_primordium", or "dense_body" in flies.
