- elpc-1 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable tRNA binding activity. Involved in several processes, including gamete generation; gene expression; and olfactory learning. Located in cytoplasm; neuron projection; and neuronal cell body. Expressed in CAN; HSN; pharynx; sensory neurons; and vulva. Used to study Riley-Day syndrome. Human ortholog(s) of this gene implicated in several diseases, including Riley-Day syndrome; bone structure disease (multiple); and medulloblastoma. Is an ortholog of human ELP1 (elongator acetyltransferase complex subunit 1).
- XRCC1 [Search on AGR]
Mus musculus PHENOTYPE: Homozygous null mutants accumulate unrepaired DNA strand breaks in the egg cylinder, show increased cell death in epiblast, developmental arrest at embryonic day 6.5, morphological anomalies in visceral embryonic endoderm by day 7.5 and die by day 8.5. [provided by MGI curators]
- dkf-1 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Enables protein serine/threonine kinase activity. Involved in several processes, including defense response to Gram-positive bacterium; determination of adult lifespan; and positive regulation of protein import into nucleus. Acts upstream of or within with a positive effect on neuromuscular synaptic transmission. Located in several cellular components, including axon; cell cortex; and somatodendritic compartment. Expressed in neurons.
- Actb [Search on AGR]
Mus musculus PHENOTYPE: Homozygous null mutants are embryonic lethal. Homozygotes for a hypomorphic targeted mutation develop normally until embryonic day 8.5; are growth retarded by day 9.5 and die shortly thereafter. [provided by MGI curators]
- elpc-3 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable phosphorylase kinase regulator activity. Involved in several processes, including gamete generation; gene expression; and olfactory learning. Predicted to be located in cytoplasm and nucleus. Predicted to be part of elongator holoenzyme complex. Expressed in CAN; HSN; amphid neurons; pharynx; and vulva. Used to study Riley-Day syndrome. Is an ortholog of human ELP3 (elongator acetyltransferase complex subunit 3).
- l17Pas2 [Search on AGR]
Mus musculus PHENOTYPE: Homozygous embryos die before day 8 of gestation. [provided by MGI curators]
- Cfap410 [Search on AGR]
Homo sapiens Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]
- Ugcg [Search on AGR]
Mus musculus PHENOTYPE: At embryonic day 7.5, embryos homozygous for a null mutation exhibit decreased size, markedly reduced extraembryonic tissues and a large increase in cells undergoing apoptosis. Mutants die by embryonic day 8.5. [provided by MGI curators]
- FEN1 [Search on AGR]
Mus musculus PHENOTYPE: Homozygous null mutants do not form an inner cell mass, lack DNA synthesis in blastocyst giant cells and die by embryonic day 9.5. Embryonic day 3.5 blastocysts are hypersensitive to irradiation. Heterozygotes show enhanced adenocarcinoma susceptibility. [provided by MGI curators]
- Nr2f2 [Search on AGR]
Mus musculus PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired angiogenesis and heart development with hemorrhagic brains and hearts, and die around embryonic day 10. About 5% of heterozygotes share the hemorrhagic phenotype at embryonic day 9.5. [provided by MGI curators]