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Species Resource Title
Human and Animal Cells 293T(RCB2202) Identification of Prostaglandin I2 Synthase Rare Variants in Patients With Williams Syndrome and Severe Peripheral Pulmonary Stenosis.
Zebrafish pT2ZUASRFP HeterozygousKIDINS220/ARMSnonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity
Zebrafish Tg(vglut2a:loxP-DsRed-loxP-GFP) Disruption of grin2B, an ASD-associated gene, produces social deficits in zebrafish.
Arabidopsis / Cultured plant cells, genes pst00409 , pst17712 , pst01274 Natural variation in sensitivity to a loss of chloroplast translation in Arabidopsis.
Human and Animal Cells HPS3386 Generation of a human induced pluripotent stem cell line derived from a patient with dilated cardiomyopathy carrying LMNA nonsense mutation.
Human and Animal Cells PC-12(RCB0009) SLITRK6 mutations cause myopia and deafness in humans and mice.
C.elegans tm4687 A fln-2 mutation affects lethal pathology and lifespan in C. elegans.
C.elegans Kettin, the large actin-binding protein with multiple immunoglobulin domains, is essential for sarcomeric actin assembly and larval development in Caenorhabditis elegans.
Human and Animal Cells 293T(RCB2202) Congenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7.
Clawed frogs / Newts Xenopus pax6 mutants affect eye development and other organ systems, and have phenotypic similarities to human aniridia patients.
Mice RBRC00063 Genetic and animal model analyses reveal the pathogenic role of a novel deletion of RELN in schizophrenia.
Rice Induced mutation line The rice endosperm ADP-glucose pyrophosphorylase large subunit is essential for optimal catalysis and allosteric regulation of the heterotetrameric enzyme.
Medaka zmpste24(Y79X) (MT1222) , OK-Cab (MT830) , Tg(CMV-H2B-GFP) (TG849) Abnormal nuclear morphology is independent of longevity in a zmpste24-deficient fish model of Hutchinson-Gilford progeria syndrome (HGPS).
Prokaryotes E. coli JW3066-KC , JW2975-KC , JW2976-KC , JW3065-KC Temperature sensitivity and cell division defects in an Escherichia coli strain with mutations in yghB and yqjA, encoding related and conserved inner membrane proteins.
DNA material Genome Network Project Clone IRAL038I16 (HGY095408) Cereblon is recruited to aggresome and shows cytoprotective effect against ubiquitin-proteasome system dysfunction.
Rats VF/Kyo(strainID=21) The VF rat with abnormal myelinogenesis has a mutation in Dopey1.
Mice RBRC02227 Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.
Rats F344-Lepm1Kyo(strainID=995) Generation of leptin-deficient Lepmkyo/Lepmkyo rats and identification of leptin-responsive genes in the liver.
DNA material pUPAT-egfp3ic (RDB07884) , pUPAT-SRV (RDB07885) Suppression of nonsense-mediated mRNA decay permits unbiased gene trapping in mouse embryonic stem cells.
Rats F344-Hrkrh/Kyo(strainID=757) Kyoto rhino rats derived by ENU mutagenesis undergo congenital hair loss and exhibit focal glomerulosclerosis.