Taf1 knockout is lethal in embryonic male mice and heterozygous females show weight and movement disorders.
Disease models & mechanisms
Elisa Marie Crombie and Andrea Korecki and Karen Cleverley and Bethany Adair and J. Thomas Cunningham and Weaverly Colleen Lee and Tess Lengyell and Cheryl Maduro and Victor Mo and Liam Slade and Ines Zouhair and Elizabeth Fisher and Elizabeth M. Simpson
DOI: 10.1242/dmm.050741
PubMed: 38804708

An oocyte-specific Cas9-expressing mouse for germline CRISPR/Cas9-mediated genome editing.
Genesis (New York, N.Y. : 2000)
Denise Lanza and Mao J and Lorenzo I and Liao L and Seavitt JR and Ljungberg MC and Simpson EM and Francesco DeMayo and Jason Heaney
DOI: 10.1002/dvg.23589
PubMed: 38523431

Sonoselective delivery using ultrasound and microbubbles combined with intravenous rAAV9 CLDN5-GFP does not increase endothelial gene expression
Gene Therapy
Rikke Hahn Kofoed and Elizabeth M. Simpson and Kullervo Hynynen and Isabelle Aubert
DOI: 10.1038/s41434-023-00389-y

rAAV-PHP.B escapes the mouse eye and causes lethality whereas rAAV9 can transduce aniridic corneal limbal stem cells without lethality
Gene Therapy
Seyedeh Zeinab Mirjalili Mohanna and Andrea J. Korecki and Elizabeth M. Simpson
DOI: 10.1038/s41434-023-00400-6

ABE8e Corrects Pax6-Aniridic Variant in Humanized Mouse ESCs and via LNPs in Ex Vivo Cortical Neurons
Ophthalmology and Therapy
Bethany A. Adair and Andrea J. Korecki and Diana Djaksigulova and Pamela K. Wagner and Nina Y. Chiu and Siu Ling Lam and Tess C. Lengyell and Blair R. Leavitt and Elizabeth M. Simpson
DOI: 10.1007/s40123-023-00729-6

OnTarget: in silico design of MiniPromoters for targeted delivery of expression.
Nucleic acids research
Oriol Fornés and Av-Shalom TV and Korecki AJ and Farkas RA and Arenillas DJ and Anthony Mathelier and Simpson EM and Wyeth Wasserman
DOI: 10.1093/nar/gkad375
PubMed: 37166953

A novel association between platelet filamin A and soluble N-ethylmaleimide sensitive factor attachment proteins regulates granule secretion.
Research and practice in thrombosis and haemostasis
Golla K and Paul M and Lengyell TC and Simpson EM and Falet H and Kim H
DOI: 10.1016/j.rpth.2022.100019
PubMed: 37538498

Targeted Expression of Retinoschisin by Retinal Bipolar Cells in XLRS Promotes Resolution of Retinoschisis Cysts Sans RS1 From Photoreceptors.
Investigative ophthalmology & visual science
DOI: 10.1167/iovs.63.11.8
PubMed: 36227606

LNP-mediated delivery of CRISPR RNP for wide-spread in vivo genome editing in mouse cornea.
Journal of controlled release : official journal of the Controlled Release Society
DOI: 10.1016/j.jconrel.2022.08.042
PubMed: 36029893

Transgene distribution and immune response after ultrasound delivery of rAAV9 and PHP.B to the brain in a mouse model of amyloidosis
Molecular Therapy - Methods & Clinical Development
Rikke Hahn Kofoed and Stefan Heinen and Joseph Silburt and Sonam Dubey and Chinaza Lilian Dibia and Miriam Maes and Elizabeth M. Simpson and Kullervo Hynynen and Isabelle Aubert
DOI: 10.1016/j.omtm.2021.10.001

Intracerebroventricular Administration of AAV9-PHP.B SYN1-EmGFP Induces Widespread Transgene Expression in the Mouse and Monkey Central Nervous System
Human Gene Therapy
Adriana Galvan and Terri L. Petkau and Austin M. Hill and Andrea J. Korecki and Ge Lu and Diane Choi and Kazi Rahman and Elizabeth M. Simpson and Blair R. Leavitt and Yoland Smith
DOI: 10.1089/hum.2020.301

Human MiniPromoters for ocular-rAAV expression in ON bipolar, cone, corneal, endothelial, Müller glial, and PAX6 cells.
Gene therapy
Korecki AJ and Cueva-Vargas JL and Fornes O and Agostinone J and Farkas RA and Hickmott JW and Lam SL and Mathelier A and Zhou M and Wasserman WW and Di Polo A and Simpson EM
DOI: 10.1038/s41434-021-00227-z
PubMed: 33531684

Human progranulin-expressing mice as a novel tool for the development of progranulin-modulating therapeutics.
Neurobiology of disease
DOI: 10.1016/j.nbd.2021.105314
PubMed: 33636385

A Novel Mouse Model for Pyridoxine-Dependent Epilepsy Due to Antiquitin Deficiency.
Human molecular genetics
DOI: 10.1093/hmg/ddaa202
PubMed: 32969477

Germline CRISPR/Cas9-Mediated Gene Editing Prevents Vision Loss in a Novel Mouse Model of Aniridia.
Molecular therapy. Methods & clinical development
DOI: 10.1016/j.omtm.2020.03.002
PubMed: 32258211

Ferroportin-mediated iron export from vascular endothelial cells in retina and brain.
Experimental eye research
DOI: 10.1016/j.exer.2019.107728
PubMed: 31323276

Twenty-Seven Tamoxifen-Inducible iCre-Driver Mouse Strains for Eye and Brain, Including Seventeen Carrying a New Inducible-First Constitutive-Ready Allele.
DOI: 10.1534/genetics.119.301984
PubMed: 30765420

How do genes that escape from X-chromosome inactivation contribute to Turner syndrome?
American journal of medical genetics. Part C, Seminars in medical genetics
DOI: 10.1002/ajmg.c.31672
PubMed: 30779428

Epistasis between Pax6Sey and genetic background reinforces the value of defined hybrid mouse models for therapeutic trials.
Gene therapy
DOI: 10.1038/s41434-018-0043-6
PubMed: 30258099

New MiniPromoter Ple345 (NEFL) Drives Strong and Specific Expression in Retinal Ganglion Cells of Mouse and Primate Retina.
Human gene therapy
Simpson E and Korecki AJ and Fornes O and McGill TJ and Cueva-Vargas JL and Agostinone J and Farkas RA and Hickmott JW and Lam SL and Mathelier A and Renner LM and Stoddard J and Wasserman WW
DOI: 10.1089/hum.2018.118
PubMed: 30062914

Human cis-acting elements regulating escape from X-chromosome inactivation function in mouse.
Human molecular genetics
Peeters SB and Korecki AJ and Simpson EM and Brown CJ
DOI: 10.1093/hmg/ddy039
PubMed: 29401310

HMMR acts in the PLK1-dependent spindle positioning pathway and supports neural development.
Connell M and Chen H and Jiang J and Kuan CW and Fotovati A and Chu TL and He Z and Lengyell TC and Li H and Kroll T and Li AM and Goldowitz D and Frappart L and Ploubidou A and Patel MS and Maxwell CA
PubMed: 28994651

Genome wide conditional mouse knockout resources
Drug Discovery Today: Disease Models

Co-activator candidate interactions for orphan nuclear receptor NR2E1.
BMC genomics
DOI: 10.1186/s12864-016-3173-5
PubMed: 27782803

rAAV-compatible MiniPromoters for restricted expression in the brain and eye.
Molecular brain
DOI: 10.1186/s13041-016-0232-4
PubMed: 27164903

PAX6 MiniPromoters drive restricted expression from rAAV in the adult mouse retina.
Molecular therapy. Methods & clinical development
DOI: 10.1038/mtm.2016.51
PubMed: 27556059

Intravitreal delivery of a novel AAV vector targets ON bipolar cells and restores visual function in a mouse model of complete congenital stationary night blindness.
Human molecular genetics
DOI: 10.1093/hmg/ddv341
PubMed: 26310623

Combined serial analysis of gene expression and transcription factor binding site prediction identifies novel-candidate-target genes of Nr2e1 in neocortex development.
BMC genomics
DOI: 10.1186/s12864-015-1770-3
PubMed: 26204903

Nr2e1 regulates retinal lamination and the development of Müller glia, S-cones, and glycineric amacrine cells during retinogenesis.
Molecular brain
DOI: 10.1186/s13041-015-0126-x
PubMed: 26092486

Targeted CNS Delivery Using Human MiniPromoters and Demonstrated Compatibility with Adeno-Associated Viral Vectors.
Molecular therapy. Methods & clinical development
DOI: 10.1038/mtm.2013.5
PubMed: 24761428

Non-coding-regulatory regions of human brain genes delineated by bacterial artificial chromosome knock-in mice.
BMC biology
DOI: 10.1186/1741-7007-11-106
PubMed: 24124870

Targeting of >1.5 Mb of human DNA into the mouse X chromosome reveals presence of cis-acting regulators of epigenetic silencing.
DOI: 10.1534/genetics.112.143743
PubMed: 23023002

The mammalian gene function resource: the International Knockout Mouse Consortium.
Mammalian genome : official journal of the International Mammalian Genome Society
DOI: 10.1007/s00335-012-9422-2
PubMed: 22968824

Beyond knockouts: cre resources for conditional mutagenesis.
Mammalian genome : official journal of the International Mammalian Genome Society
DOI: 10.1007/s00335-012-9430-2
PubMed: 22926223

Retina restored and brain abnormalities ameliorated by single-copy knock-in of human NR2E1 in null mice.
Molecular and cellular biology
DOI: 10.1128/mcb.06016-11
PubMed: 22290436

Absence of NR2E1 mutations in patients with aniridia.
Molecular vision
PubMed: 23213277

Modelling human regulatory variation in mouse: finding the function in genome-wide association studies and whole-genome sequencing.
PLoS genetics
DOI: 10.1371/journal.pgen.1002544
PubMed: 22396661

The transcription factor encyclopedia.
Genome biology
DOI: 10.1186/gb-2012-13-3-r24
PubMed: 22458515

A high G418-resistant neo(R) transgenic mouse and mouse embryonic fibroblast (MEF) feeder layers for cytotoxicity and gene targeting in vivo and in vitro.
Drug and chemical toxicology
DOI: 10.3109/01480545.2010.544316
PubMed: 21740348

Hyperactivity, startle reactivity and cell-proliferation deficits are resistant to chronic lithium treatment in adult Nr2e1(frc/frc) mice.
Genes, brain, and behavior
DOI: 10.1111/j.1601-183x.2010.00602.x
PubMed: 20497236

A regulatory toolbox of MiniPromoters to drive selective expression in the brain.
Proceedings of the National Academy of Sciences of the United States of America
DOI: 10.1073/pnas.1009158107
PubMed: 20807748

Laboratory Animal Management Assistant (LAMA): a LIMS for active research colonies.
Mammalian genome : official journal of the International Mammalian Genome Society
DOI: 10.1007/s00335-010-9258-6
PubMed: 20411264

Expression analysis of novel striatal-enriched genes in Huntington disease.
Human molecular genetics
DOI: 10.1093/hmg/ddp527
PubMed: 19934114

Next generation tools for high-throughput promoter and expression analysis employing single-copy knock-ins at the Hprt1 locus.
DOI: 10.1016/j.ygeno.2008.09.014
PubMed: 18950699

Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi.
DOI: 10.1038/nature07586
PubMed: 19078957

Initial association of NR2E1 with bipolar disorder and identification of candidate mutations in bipolar disorder, schizophrenia, and aggression through resequencing.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
DOI: 10.1002/ajmg.b.30696
PubMed: 18205168

Identification of a set of genes showing regionally enriched expression in the mouse brain.
BMC neuroscience
DOI: 10.1186/1471-2202-9-66
PubMed: 18625066

Infant serotonin transporter (SLC6A4) promoter genotype is associated with adverse neonatal outcomes after prenatal exposure to serotonin reuptake inhibitor medications.
Molecular psychiatry
DOI: 10.1038/
PubMed: 17519929

Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations.
Genes, brain, and behavior
DOI: 10.1111/j.1601-183x.2006.00277.x
PubMed: 17054721

Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes.
BMC medical genetics
DOI: 10.1186/1471-2156-8-48
PubMed: 17655765

Hippi is essential for node cilia assembly and Sonic hedgehog signaling.
Developmental biology
DOI: 10.1016/j.ydbio.2006.09.001
PubMed: 17027958

Als2-deficient mice exhibit disturbances in endosome trafficking associated with motor behavioral abnormalities.
Proceedings of the National Academy of Sciences of the United States of America
DOI: 10.1073/pnas.0510197103
PubMed: 16769894

SAGE2Splice: unmapped SAGE tags reveal novel splice junctions.
PLoS computational biology
DOI: 10.1371/journal.pcbi.0020034
PubMed: 16683015

Deletion of the nuclear receptor Nr2e1 impairs synaptic plasticity and dendritic structure in the mouse dentate gyrus.
DOI: 10.1016/j.neuroscience.2005.08.091
PubMed: 16289828

A mouse atlas of gene expression: large-scale digital gene-expression profiles from precisely defined developing C57BL/6J mouse tissues and cells.
Proceedings of the National Academy of Sciences of the United States of America
DOI: 10.1073/pnas.0509455102
PubMed: 16352711

Pathological aggression in "fierce" mice corrected by human nuclear receptor 2E1.
The Journal of neuroscience : the official journal of the Society for Neuroscience
DOI: 10.1523/jneurosci.4757-04.2005
PubMed: 16000615

Of mice and men: will the intersection of social science and genetics create new approaches for intimate partner violence?
Journal of interpersonal violence
DOI: 10.1177/0886260504268120
PubMed: 15618562

Caspase-7 expanded function and intrinsic expression level underlies strain-specific brain phenotype of caspase-3-null mice.
The Journal of neuroscience : the official journal of the Society for Neuroscience
DOI: 10.1523/jneurosci.3356-04.2004
PubMed: 15525783

Engineering embryonic stem cell derived glia for adenosine delivery.
Neuroscience letters
DOI: 10.1016/j.neulet.2004.08.031
PubMed: 15488315

The dark phase improves genetic discrimination for some high throughput mouse behavioral phenotyping.
Genes, brain, and behavior
DOI: 10.1111/j.1601-183x.2004.00069.x
PubMed: 15140012

Unexpected embryonic stem (ES) cell mutations represent a concern in gene targeting: lessons from "fierce" mice.
Genesis (New York, N.Y. : 2000)
DOI: 10.1002/gene.20001
PubMed: 14994267

Retroposon compensatory mechanism hypothesis not supported: Zfa knockout mice are fertile.
DOI: 10.1016/s0888-7543(03)00155-1
PubMed: 12906850

Metaphase FISHing of transgenic mice recommended: FISH and SKY define BAC-mediated balanced translocation.
Genesis (New York, N.Y. : 2000)
DOI: 10.1002/gene.10205
PubMed: 12872244

Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease.
Human molecular genetics
DOI: 10.1093/hmg/ddg169
PubMed: 12812983

Novel vertebrate genes and putative regulatory elements identified at kidney disease and NR2E1/fierce loci.
DOI: 10.1006/geno.2002.6795
PubMed: 12079282

Novel Sxr(a) ES cell line offers hope for Y chromosome gene-targeted mice.
Genesis (New York, N.Y. : 2000)
DOI: 10.1002/gene.10093
PubMed: 12112873

Fierce: a new mouse deletion of Nr2e1; violent behaviour and ocular abnormalities are background-dependent.
Behavioural brain research
DOI: 10.1016/s0166-4328(01)00413-2
PubMed: 11997145

Transgenic mice for the preparation of puromycin-resistant primary embryonic fibroblast feeder layers for embryonic stem cell selection.
Mammalian genome : official journal of the International Mammalian Genome Society
DOI: 10.1007/s003350010238
PubMed: 11210188

Inter-chromosomal recombination of Mll and Af9 genes mediated by cre-loxP in mouse development.
EMBO reports
DOI: 10.1093/embo-reports/kvd021
PubMed: 11265751

Revised nomenclature for strain 129 mice.
Mammalian genome : official journal of the International Mammalian Genome Society
DOI: 10.1007/s003359901099
PubMed: 10430671

An essential role for Fas ligand in transplantation tolerance induced by donor bone marrow.
Nature medicine
DOI: 10.1038/nm0398-333
PubMed: 9500608

The mouse Y chromosome: enrichment, sizing, and cloning by bivariate flow cytometry.
DOI: 10.1006/geno.1997.5176
PubMed: 9545635

Mutant mice and neuroscience: recommendations concerning genetic background. Banbury Conference on genetic background in mice.
PubMed: 9354323

An expanded collection of mouse Y chromosome RDA clones.
Mammalian genome : official journal of the International Mammalian Genome Society
DOI: 10.1007/s003359900486
PubMed: 9195997

Impaired fertility in mice deficient for the testicular germ-cell protease PC4.
Proceedings of the National Academy of Sciences of the United States of America
DOI: 10.1073/pnas.94.13.6842
PubMed: 9192653

Expression of hygR in transgenic mice causes resistance to toxic effects of hygromycin B in vivo.
The Journal of pharmacology and experimental therapeutics
PubMed: 9152410

Genetic variation among 129 substrains and its importance for targeted mutagenesis in mice.
Nature genetics
DOI: 10.1038/ng0597-19
PubMed: 9140391

Mice lacking mitochondrial uncoupling protein are cold-sensitive but not obese.
DOI: 10.1038/387090a0
PubMed: 9139827

Intron/exon structure confirms that mouse Zfy1 and Zfy2 are members of the ZFY gene family.
DOI: 10.1006/geno.1997.4611
PubMed: 9126493

B7-1 and B7-2 have overlapping, critical roles in immunoglobulin class switching and germinal center formation.
DOI: 10.1016/s1074-7613(00)80333-7
PubMed: 9075931

Mouse Y-specific repeats isolated by whole chromosome representational difference analysis.
DOI: 10.1006/geno.1996.0473
PubMed: 8812464

Frequencies of cystic fibrosis mutations in the Maine population: high proportion of unknown alleles in individuals of French-Canadian ancestry.
Human genetics
DOI: 10.1007/s004390050192
PubMed: 8698344

Mammalian Genome
Encyclopedia of Molecular Biology and Molecular Medicine

Linkage mapping of the gene for the LIM-homeoprotein LIM3 (locus Lhx3) to mouse chromosome 2.
Mammalian genome : official journal of the International Mammalian Genome Society
DOI: 10.1007/bf00539012
PubMed: 8597642

Transgenic mice for the preparation of hygromycin-resistant primary embryonic fibroblast feeder layers for embryonic stem cell selections.
Nucleic acids research
DOI: 10.1093/nar/23.7.1273
PubMed: 7739908

Chromosomal assignment of the genes for proprotein convertases PC4, PC5, and PACE 4 in mouse and human.
DOI: 10.1016/0888-7543(95)80090-9
PubMed: 7782070

Characterization of the murine Zfy1 and Zfy2 promoters.
DOI: 10.1006/geno.1994.1641
PubMed: 7698773

Expression of a mouse Zfy-1/lacZ transgene in the somatic cells of the embryonic gonad and germ cells of the adult testis.
Development (Cambridge, England)
PubMed: 8050362

Book Review: Molecular Genetics of Sex Determination

An interstitial deletion in mouse Y chromosomal DNA created a transcribed Zfy fusion gene.
DOI: 10.1016/0888-7543(91)90067-o
PubMed: 1774064

Chromosomal localization of ZFX--a human gene that escapes X inactivation--and its murine homologs.
DOI: 10.1016/0888-7543(90)90516-w
PubMed: 1970799

Mouse Zfx protein is similar to Zfy-2: each contains an acidic activating domain and 13 zinc fingers.
Molecular and cellular biology
DOI: 10.1128/mcb.10.2.681
PubMed: 2105457

The sex-determining function of the human Y Chromosome
Biotechnology and Human Genetic Predisposition to Disease

The sex-determining region of the human Y chromosome encodes a finger protein.
DOI: 10.1016/0092-8674(87)90595-2
PubMed: 3690661

Isolation and characterization of temperature-sensitive RNA polymerase II mutants of Saccharomyces cerevisiae.
Molecular and cellular biology
DOI: 10.1128/mcb.7.6.2155
PubMed: 3299061

Complete sequence of three alpha-tubulin cDNAs in Chinese hamster ovary cells: each encodes a distinct alpha-tubulin isoprotein.
Molecular and cellular biology
DOI: 10.1128/mcb.6.3.906
PubMed: 3773896

Cloning of 11 alpha-tubulin gene sequences from the genome of Chinese hamster ovary cells.
Canadian journal of biochemistry and cell biology = Revue canadienne de biochimie et biologie cellulaire
PubMed: 2931165

Differential expression of three alpha-tubulin genes in Chinese hamster ovary cells.
Molecular and cellular biology
DOI: 10.1128/mcb.5.1.236
PubMed: 3982416

The a-tubulin gene family of Chinese Hamster Ovary Cells

Selection and characterization of Chinese hamster ovary cell mutants resistant to melphalan (L-phenylalanine mustard).
Cancer research
PubMed: 7448783

Selection and characterization of Chinese Hamster Ovary Cell mutants resistant to Melphalan

Research Group Members

Diana Djaksigulova, Volunteer
Andrea Korecki
Zeinab Mohanna, Volunteer