Species
|
Resource
|
RRC ID
|
Title
|
Journal
|
Published
|
Link
|
Zebrafish
|
hspGFF3A
|
82787
|
Compound heterozygosity deteriorates phenotypes of hypertrophic cardiomyopathy with founder MYBPC3 mutation: evidence from patients and zebrafish models.
|
Am J Physiol Heart Circ Physiol |
2014-12-1 |
Pubmed
Full text
|
Human and Animal Cells
|
ASF-4-3L(RCB3580)
|
77503
|
A sublethal ATP11A mutation associated with neurological deterioration causes aberrant phosphatidylcholine flipping in plasma membranes.
|
J Clin Invest |
2021-9-15 |
Pubmed
Full text
|
Drosophila
|
DGRC#118826
|
73492
|
Introgression of Drosophila simulans nuclear pore protein 160 in Drosophila melanogaster alone does not cause inviability but does cause female sterility.
|
Genetics |
2010-10-1 |
Pubmed
Full text
|
Human and Animal Cells
|
COS-1(RCB0143)
|
72341
|
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.
|
Growth Horm IGF Res |
2001-12-1 |
Pubmed
Full text
|
Drosophila
|
DGRC#104670
,
DGRC#112419
,
DGRC#114328
,
DGRC#113446
|
70835
|
The ZO-1 protein Polychaetoid as an upstream regulator of the Hippo pathway in Drosophila.
|
PLoS Genet |
2021-11-1 |
Pubmed
Full text
|
Human and Animal Cells
|
1231A3(HPS0381)
|
69780
|
Generation of NPHP1 knockout human pluripotent stem cells by a practical biallelic gene deletion strategy using CRISPR/Cas9 and ssODN.
|
In Vitro Cell Dev Biol Anim |
2022-2-1 |
Pubmed
Full text
|
Drosophila
|
8376R-1
|
69050
|
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.
|
PLoS Biol |
2021-12-1 |
Pubmed
Full text
|
Human and Animal Cells
|
293(RCB1637)
|
67307
|
Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels.
|
Hum Mol Genet |
2015-2-1 |
Pubmed
Full text
|
Zebrafish
|
Tg(TRPC24.5k :gap-Venus)rw037Tg
,
Tg(OMP2k :gap-CFP)rw034
|
66010
|
Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism.
|
Am J Hum Genet |
2020-1-2 |
Pubmed
Full text
|
Zebrafish
|
Tg(isl1:GFP) rw0
|
65894
|
Investigation of Islet2a function in zebrafish embryos: Mutants and morphants differ in morphologic phenotypes and gene expression.
|
PLoS One |
2018-1-1 |
Pubmed
Full text
|
Human and Animal Cells
|
COS-1(RCB0143)
|
64639
|
Factor X Deficiency with Heterozygous Mutations of Novel p.G435S and Known p.G244R in a Patient Presenting with Severe Umbilical Hemorrhage.
|
Kurume Med J |
2017-4-13 |
Pubmed
Full text
|
Human and Animal Cells
|
MKN1(RCB1003)
,
MKN7(RCB0999)
,
MKN45(RCB1001)
,
GCIY(RCB0555)
|
61277
|
Analysis of the fragile histidine triad gene in primary gastric carcinomas and gastric carcinoma cell lines.
|
Genes Chromosomes Cancer |
1997-9-1 |
Pubmed
|
DNA material
|
Genome Network Project Human cDNA IRAK049F12 (HGX019732)
|
60780
|
TBX5 R264K acts as a modifier to develop dilated cardiomyopathy in mice independently of T-box pathway.
|
PLoS One |
2020-1-1 |
Pubmed
Full text
|
Chicken / Quail
|
JB
,
GSP/Cp
|
60687
|
Combined deletions of IHH and NHEJ1 cause chondrodystrophy and embryonic lethality in the Creeper chicken.
|
Commun Biol |
2020-3-25 |
Pubmed
Full text
|
Drosophila
|
DGRC#111506
|
59101
|
A Drosophila model to study retinitis pigmentosa pathology associated with mutations in the core splicing factor Prp8.
|
Dis Model Mech |
2020-6-26 |
Pubmed
Full text
|
DNA material
|
T7-NLS hCas9-pA (RDB13130)
|
58490
|
Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes.
|
Nat Commun |
2020-2-26 |
Pubmed
Full text
|
Zebrafish
|
Tol-056
|
55007
|
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
|
Am J Hum Genet |
2018-9-6 |
Pubmed
Full text
|
Cord blood stem cells for research
|
|
53215
|
Maintenance of the functional integrity of mouse hematopoiesis by EED and promotion of leukemogenesis by EED haploinsufficiency.
|
Sci Rep |
2016-7-19 |
Pubmed
Full text
|
DNA material
|
pAID-GTOP (RDB03000)
,
pmAID BSSK (RDB02864).
|
50599
|
Class switch recombination and hypermutation require activation-induced cytidine deaminase (AID), a potential RNA editing enzyme.
|
Cell |
2000-9-1 |
Pubmed
Full text
|
DNA material
|
pX330-U6-Chimeric_BB-CBh-hSpCas9 sgRNA ATM exon11 (RDB15816)
|
50506
|
Evaluation of ATM heterozygous mutations underlying individual differences in radiosensitivity using genome editing in human cultured cells.
|
Sci Rep |
2017-7-20 |
Pubmed
Full text
|