• 89 Hits
  • Search Condition : Filter (MeSH = Heterozygote)
Species Resource Title
Zebrafish hspGFF3A Compound heterozygosity deteriorates phenotypes of hypertrophic cardiomyopathy with founder MYBPC3 mutation: evidence from patients and zebrafish models.
Human and Animal Cells ASF-4-3L(RCB3580) A sublethal ATP11A mutation associated with neurological deterioration causes aberrant phosphatidylcholine flipping in plasma membranes.
Drosophila DGRC#118826 Introgression of Drosophila simulans nuclear pore protein 160 in Drosophila melanogaster alone does not cause inviability but does cause female sterility.
Human and Animal Cells COS-1(RCB0143) A novel and de novo splice-donor site mutation in intron 3 of the GH-1 gene in a patient with isolated growth hormone deficiency.
Drosophila DGRC#104670 , DGRC#112419 , DGRC#114328 , DGRC#113446 The ZO-1 protein Polychaetoid as an upstream regulator of the Hippo pathway in Drosophila.
Human and Animal Cells 1231A3(HPS0381) Generation of NPHP1 knockout human pluripotent stem cells by a practical biallelic gene deletion strategy using CRISPR/Cas9 and ssODN.
Drosophila 8376R-1 Consolidation and maintenance of long-term memory involve dual functions of the developmental regulator Apterous in clock neurons and mushroom bodies in the Drosophila brain.
Human and Animal Cells 293(RCB1637) Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels.
Zebrafish Tg(TRPC24.5k :gap-Venus)rw037Tg , Tg(OMP2k :gap-CFP)rw034 Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism.
Zebrafish Tg(isl1:GFP) rw0 Investigation of Islet2a function in zebrafish embryos: Mutants and morphants differ in morphologic phenotypes and gene expression.
Human and Animal Cells COS-1(RCB0143) Factor X Deficiency with Heterozygous Mutations of Novel p.G435S and Known p.G244R in a Patient Presenting with Severe Umbilical Hemorrhage.
Human and Animal Cells MKN1(RCB1003) , MKN7(RCB0999) , MKN45(RCB1001) , GCIY(RCB0555) Analysis of the fragile histidine triad gene in primary gastric carcinomas and gastric carcinoma cell lines.
DNA material Genome Network Project Human cDNA IRAK049F12 (HGX019732) TBX5 R264K acts as a modifier to develop dilated cardiomyopathy in mice independently of T-box pathway.
Chicken / Quail JB , GSP/Cp Combined deletions of IHH and NHEJ1 cause chondrodystrophy and embryonic lethality in the Creeper chicken.
Drosophila DGRC#111506 A Drosophila model to study retinitis pigmentosa pathology associated with mutations in the core splicing factor Prp8.
DNA material T7-NLS hCas9-pA (RDB13130) Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes.
Zebrafish Tol-056 De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
Cord blood stem cells for research Maintenance of the functional integrity of mouse hematopoiesis by EED and promotion of leukemogenesis by EED haploinsufficiency.
DNA material pAID-GTOP (RDB03000) , pmAID BSSK (RDB02864). Class switch recombination and hypermutation require activation-induced cytidine deaminase (AID), a potential RNA editing enzyme.
DNA material pX330-U6-Chimeric_BB-CBh-hSpCas9 sgRNA ATM exon11 (RDB15816) Evaluation of ATM heterozygous mutations underlying individual differences in radiosensitivity using genome editing in human cultured cells.