Skip to main content
. 2010 Oct 19;4:140. doi: 10.1186/1752-0509-4-140

Table 3.

Results on gene essentiality predictions by the finalized mouse model.

Gene Name Reactions Subgroup Mutation lethal Comment Reference
EBP 3-beta-hydroxysteroid-delta(8),delta(7)-isomerase Cholesterol Metabolism yes X-linked genes, homozygous males are non-viable (prenatal lethality) Means et al.
DHCR7 7-dehydrocholesterol reductase Cholesterol Metabolism yes Prenatal lethality of homozygotes Yu et al.
DHCR24 24-dehydrocholesterol reductase Cholesterol Metabolism yes Prenatal lethality of homozygotes Mirza et al.
FDFT1 Squalene synthase Cholesterol Metabolism yes Prenatal lethality of homozygotes Tozawa et al.
HSD17B4 C-3 sterol keto reductase, Beta oxidation of long chain fatty acid, 3-hydroxyacyl-CoA dehydrogenase, hydroxysteroid (17-beta) dehydrogenase 4, peroxisomal lumped long chain fatty acid oxidation Cholesterol Metabolism yes Pre/Peri/Postnathal lethality of homozygotes Huyghe et al.
NSDHL C-3 sterol dehydrogenase, C-4 methyl sterol oxidase Cholesterol Metabolism yes X-linked gene, males and homozygous females are non-viable (prenatal lethality) Cunningham et al
SC5DL Lathosterol oxidase Cholesterol Metabolism yes Perinatal lethality of homozygotes Krakowiak et al.
SPTLC1 serine palmitoyltransferase, long chain base subunit 1 Sphingolipid Metabolism yes Embryonic lethality of homozygotes Hojjati et al.
DHFR dihydrofolate reductase, folate reductase Folate Metabolism yes Embryonic lethality of homozygotes Di Pietro et al.
PISD phosphatidylserine decarboxylase, mitochondrial Glycerophospholipid Metabolism yes Embryonic lethality of homozygotes Steenbergen et al.
PHGDH phosphoglycerate dehydrogenase Glycine, Serine, and Threonine Metabolism yes Embryonic lethality of homozygotes Yoshida et al.
HMGCR Hydroxymethylglutaryl CoA reductase (ir) Cholesterol Metabolism yes Embryonic lethality of homozygotes Tanaka et al.
CBS cystathionine beta-synthase, selanocystathionine beta-synthase Methionine Metabolism yes Homozygous mice die within 5 weeks after birth Watanabe et al.
SPTLC2 serine C-palmitoyltransferase Sphingolipid Metabolism yes Embryonic lethality of homozygotes Hojjati et al.
PAH L-Phenylalanine,tetrahydrobiopterin:oxygen oxidoreductase Tyr, Phe, Trp Biosynthesis no Homozygous mice with dysruptions in the gene are viable http://www.informatics.jax.org
TM7SF2 C-14 sterol reductase Cholesterol Metabolism no Although a mixture of mutations can be lethal, homozygotes for mutations are viable http://www.informatics.jax.org
Gpam glycerol-3-phosphate acyltransferase Triacylglycerol Synthesis no Homozygous mice are viable Howerton et al.