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  • Search Condition : Filter (MeSH = Mutation / genetics*)
Species Resource Title
Mice RBRC00045 Developmental abnormality contributes to cortex-dependent motor impairments and higher intracortical current requirement in the reeler homozygous mutants.
Mice RBRC02370 Loss of TMEM106B Ameliorates Lysosomal and Frontotemporal Dementia-Related Phenotypes in Progranulin-Deficient Mice.
Mice RBRC02324 Disrupted-in-schizophrenia1 (DISC1) L100P mutation alters synaptic transmission and plasticity in the hippocampus and causes recognition memory deficits.
Mice RBRC01361 Loss of p53 induces leukemic transformation in a murine model of Jak2 V617F-driven polycythemia vera.
Zebrafish SAIGFF213A, mnr2b-hs:EGFP-TDP-43z, UAS:opTDP-43z Optogenetic TDP-43 nucleation induces persistent insoluble species and progressive motor dysfunction in vivo.
Zebrafish SAGFF(LF)214A Zebrafish enpp1 mutants exhibit pathological mineralization, mimicking features of generalized arterial calcification of infancy (GACI) and pseudoxanthoma elasticum (PXE).
Drosophila DGRC#119154 , DGRC#119155 pox-neuro is required for development of chemosensory bristles in Drosophila.
Human and Animal Cells CHO-K1(RCB0285) T75M-KCNJ2 mutation causing Andersen-Tawil syndrome enhances inward rectification by changing Mg2+ sensitivity.
Human and Animal Cells Ba/F3-CL1(RCB4474) , WEHI-3(RCB0035) , 293T(RCB2202) Landscape and function of multiple mutations within individual oncogenes.
Zebrafish hspGFFDMC130A A genome-wide screen identifies PAPP-AA-mediated IGFR signaling as a novel regulator of habituation learning.
Mice RBRC01615 Diverse dystonin gene mutations cause distinct patterns of Dst isoform deficiency and phenotypic heterogeneity in Dystonia musculorum mice.
Human and Animal Cells KG-1(RCB1166) DNMT3A R882 mutants interact with polycomb proteins to block haematopoietic stem and leukaemic cell differentiation.
Human and Animal Cells M10(RCB0136) Functional analysis of XRCC4 mutations in reported microcephaly and growth defect patients in terms of radiosensitivity.
Human and Animal Cells PC-9(RCB4455) DDX3X induces primary EGFR-TKI resistance based on intratumor heterogeneity in lung cancer cells harboring EGFR-activating mutations.
Human and Animal Cells KP4(RCB1005) Combining onartuzumab with erlotinib inhibits growth of non-small cell lung cancer with activating EGFR mutations and HGF overexpression.
Zebrafish Tg（isl1:GFP) rw0 Investigation of Islet2a function in zebrafish embryos: Mutants and morphants differ in morphologic phenotypes and gene expression.
C.elegans tm5030 , tm6659 Mutation of daf-2 extends lifespan via tissue-specific effectors that suppress distinct life-limiting pathologies.
Human and Animal Cells CW-2(RCB0778) Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients.
Human and Animal Cells PC-9(RCB4455) Transient IGF-1R inhibition combined with osimertinib eradicates AXL-low expressing EGFR mutated lung cancer.
Human and Animal Cells TUHR4TKB(RCB1198) , TUHR10TKB(RCB1275) , TUHR14TKB(RCB1383) Hypermethylation of the RASSF1A tumor suppressor gene in Japanese clear cell renal cell carcinoma.