Publications

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
03/2020

Ferroportin-mediated iron export from vascular endothelial cells in retina and brain.
Experimental eye research
DOI: 10.1016/j.exer.2019.107728
PubMed: 31323276
07/2019

Twenty-Seven Tamoxifen-Inducible iCre-Driver Mouse Strains for Eye and Brain, Including Seventeen Carrying a New Inducible-First Constitutive-Ready Allele.
Genetics
DOI: 10.1534/genetics.119.301984
PubMed: 30765420
02/2019

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
02/2019

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
09/2018

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
07/2018

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
04/2018

HMMR acts in the PLK1-dependent spindle positioning pathway and supports neural development.
eLife
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
10/2017

Genome wide conditional mouse knockout resources
Drug Discovery Today: Disease Models
2017

Co-activator candidate interactions for orphan nuclear receptor NR2E1.
BMC genomics
DOI: 10.1186/s12864-016-3173-5
PubMed: 27782803
10/2016

rAAV-compatible MiniPromoters for restricted expression in the brain and eye.
Molecular brain
DOI: 10.1186/s13041-016-0232-4
PubMed: 27164903
05/2016

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
2016

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
11/2015

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
2015

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
2015

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
01/2014

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
2013

Targeting of >1.5 Mb of human DNA into the mouse X chromosome reveals presence of cis-acting regulators of epigenetic silencing.
Genetics
DOI: 10.1534/genetics.112.143743
PubMed: 23023002
12/2012

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
10/2012

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
10/2012

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
04/2012

Absence of NR2E1 mutations in patients with aniridia.
Molecular vision
PubMed: 23213277
2012

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
2012

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

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
10/2011

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
10/2010

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
09/2010

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
06/2010

Expression analysis of novel striatal-enriched genes in Huntington disease.
Human molecular genetics
DOI: 10.1093/hmg/ddp527
PubMed: 19934114
02/2010

Next generation tools for high-throughput promoter and expression analysis employing single-copy knock-ins at the Hprt1 locus.
Genomics
DOI: 10.1016/j.ygeno.2008.09.014
PubMed: 18950699
03/2009

Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi.
Nature
DOI: 10.1038/nature07586
PubMed: 19078957
01/2009

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
09/2008

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
07/2008

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/sj.mp.4002007
PubMed: 17519929
01/2008

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
08/2007

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
2007

Hippi is essential for node cilia assembly and Sonic hedgehog signaling.
Developmental biology
DOI: 10.1016/j.ydbio.2006.09.001
PubMed: 17027958
12/2006

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
06/2006

SAGE2Splice: unmapped SAGE tags reveal novel splice junctions.
PLoS computational biology
DOI: 10.1371/journal.pcbi.0020034
PubMed: 16683015
04/2006

Deletion of the nuclear receptor Nr2e1 impairs synaptic plasticity and dendritic structure in the mouse dentate gyrus.
Neuroscience
DOI: 10.1016/j.neuroscience.2005.08.091
PubMed: 16289828
02/2006

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
12/2005

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
07/2005

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
01/2005

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
11/2004

Engineering embryonic stem cell derived glia for adenosine delivery.
Neuroscience letters
DOI: 10.1016/j.neulet.2004.08.031
PubMed: 15488315
11/2004

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
06/2004

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
02/2004

Retroposon compensatory mechanism hypothesis not supported: Zfa knockout mice are fertile.
Genomics
DOI: 10.1016/s0888-7543(03)00155-1
PubMed: 12906850
09/2003

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
07/2003

Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease.
Human molecular genetics
DOI: 10.1093/hmg/ddg169
PubMed: 12812983
07/2003

Novel vertebrate genes and putative regulatory elements identified at kidney disease and NR2E1/fierce loci.
Genomics
DOI: 10.1006/geno.2002.6795
PubMed: 12079282
07/2002

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
06/2002

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
05/2002

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
02/2001

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
08/2000

Revised nomenclature for strain 129 mice.
Mammalian genome : official journal of the International Mammalian Genome Society
DOI: 10.1007/s003359901099
PubMed: 10430671
08/1999

An essential role for Fas ligand in transplantation tolerance induced by donor bone marrow.
Nature medicine
DOI: 10.1038/nm0398-333
PubMed: 9500608
03/1998

The mouse Y chromosome: enrichment, sizing, and cloning by bivariate flow cytometry.
Genomics
DOI: 10.1006/geno.1997.5176
PubMed: 9545635
03/1998

Mutant mice and neuroscience: recommendations concerning genetic background. Banbury Conference on genetic background in mice.
Neuron
PubMed: 9354323
10/1997

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
07/1997

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
06/1997

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
05/1997

Genetic variation among 129 substrains and its importance for targeted mutagenesis in mice.
Nature genetics
DOI: 10.1038/ng0597-19
PubMed: 9140391
05/1997

Mice lacking mitochondrial uncoupling protein are cold-sensitive but not obese.
Nature
DOI: 10.1038/387090a0
PubMed: 9139827
05/1997

Intron/exon structure confirms that mouse Zfy1 and Zfy2 are members of the ZFY gene family.
Genomics
DOI: 10.1006/geno.1997.4611
PubMed: 9126493
04/1997

B7-1 and B7-2 have overlapping, critical roles in immunoglobulin class switching and germinal center formation.
Immunity
DOI: 10.1016/s1074-7613(00)80333-7
PubMed: 9075931
03/1997

Mouse Y-specific repeats isolated by whole chromosome representational difference analysis.
Genomics
DOI: 10.1006/geno.1996.0473
PubMed: 8812464
09/1996

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
08/1996

Mammalian Genome
Encyclopedia of Molecular Biology and Molecular Medicine
1996

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
11/1995

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
04/1995

Chromosomal assignment of the genes for proprotein convertases PC4, PC5, and PACE 4 in mouse and human.
Genomics
DOI: 10.1016/0888-7543(95)80090-9
PubMed: 7782070
03/1995

Characterization of the murine Zfy1 and Zfy2 promoters.
Genomics
DOI: 10.1006/geno.1994.1641
PubMed: 7698773
11/1994

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
06/1994

Book Review: Molecular Genetics of Sex Determination
1994

An interstitial deletion in mouse Y chromosomal DNA created a transcribed Zfy fusion gene.
Genomics
DOI: 10.1016/0888-7543(91)90067-o
PubMed: 1774064
11/1991

Chromosomal localization of ZFX--a human gene that escapes X inactivation--and its murine homologs.
Genomics
DOI: 10.1016/0888-7543(90)90516-w
PubMed: 1970799
05/1990

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
02/1990

The sex-determining function of the human Y Chromosome
Biotechnology and Human Genetic Predisposition to Disease
1990

The sex-determining region of the human Y chromosome encodes a finger protein.
Cell
DOI: 10.1016/0092-8674(87)90595-2
PubMed: 3690661
12/1987

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
06/1987

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
03/1986

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
06/1985

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
01/1985

The a-tubulin gene family of Chinese Hamster Ovary Cells
1985

Selection and characterization of Chinese hamster ovary cell mutants resistant to melphalan (L-phenylalanine mustard).
Cancer research
PubMed: 7448783
02/1981

Selection and characterization of Chinese Hamster Ovary Cell mutants resistant to Melphalan
1980

Research
Research Group Members

Bethany Adair, Masters Student
Sara Djondovic, Co-Op Student
Andrea Korecki
Siu Ling Lam
Tess Lengyell, Research Technician, Research Technician
Seyedeh Zeinab Mirjalili Mohanna, Doctoral Student
Victor Mo, Research Assistant
Anqi Yao, Research Assistant