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List of works by Ian J. Jackson

17th International Mouse Genome Conference.

scientific article

A CNS-specific hypomorphic Pdgfr-beta mutant model of diabetic retinopathy

scientific article

A Cell/Cilia Cycle Biosensor for Single-Cell Kinetics Reveals Persistence of Cilia after G1/S Transition Is a General Property in Cells and Mice

A Mouse Model of Brittle Cornea Syndrome caused by mutation in Zfp469

A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains

scientific article

A comparative transcript map and candidates for mutant phenotypes in the Tyrp1 (brown) deletion complex homologous to human 9p21-23

scientific article published on 01 January 2000

A conditional zebrafish MITF mutation reveals MITF levels are critical for melanoma promotion vs. regression in vivo

scientific article published on 5 July 2013

A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected].

scientific article

A high-resolution map of the brown (b, Tyrp1) deletion complex of mouse chromosome 4.

scientific article published on June 1995

A late wave of melanoblast differentiation and rostrocaudal migration revealed in patch and rump-white embryos

scientific article published on 01 April 2000

A mouse model of brittle cornea syndrome caused by mutation in Zfp469

A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton

scientific article

A reappraisal of non-consensus mRNA splice sites

scientific article

A second tyrosinase-related protein, TRP-2, maps to and is mutated at the mouse slaty locus

scientific article

A trans-acting protein effect causes severe eye malformation in the Mp mouse

scientific journal article

A zebrafish model for nevus regeneration

scientific article published on April 2011

Activation of the receptor tyrosine kinase Kit is required for the proliferation of melanoblasts in the mouse embryo.

scientific article published in December 1997

Acute versus chronic loss of mammalian Azi1/Cep131 results in distinct ciliary phenotypes

scientific article

Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs

scientific article (publication date: 5 December 2002)

Assessing the welfare of genetically altered mice.

scientific article

Bcl2 regulation by the melanocyte master regulator Mitf modulates lineage survival and melanoma cell viability

scientific article

CG31320 (Heatr2) - ciliopathy candidate gene, functional analysis in fly and mouse models.

scientific article

Cardiac malformations and midline skeletal defects in mice lacking filamin A.

scientific article published on 6 July 2006

Cell signalling: Red alert about lipid's role in skin cancer

scientific article published on 6 September 2017

Characterisation of two identical independent non-homologous integration sites in mouse embryonic stem cells.

scientific article published on September 1993

Characterization of TRP-1 mRNA levels in dominant and recessive mutations at the mouse brown (b) locus.

scientific article

Col4a1 mutation in mice causes defects in vascular function and low blood pressure associated with reduced red blood cell volume

scientific article published on 7 January 2010

Colour-coded switches

scientific article published in Nature

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

Deficiency of Trp53 Rescues the Male Fertility Defects of KitW-v Mice but Has No Effect on the Survival of Melanocytes and Mast Cells

article

Differentiated melanocyte cell division occurs in vivo and is promoted by mutations in Mitf

scientific article

Diphthamide modification of eEF2 requires a J-domain protein and is essential for normal development

scientific article

Domains of the positive transcription factor specific for the Xenopus 5S RNA gene

article

Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy

scientific article

Dominant role of the niche in melanocyte stem-cell fate determination

scientific article published in Nature

Dopachrome tautomerase variants in patients with oculocutaneous albinism

scientific article published on 26 October 2020

Effects of rigid fixation on the growing neurocranium of immature rabbits

scientific article published in March 2007

Evolution and Expression of Tyrosinase-Related Proteins

scientific article published on 01 August 1994

Evolution in action: highlighting a role for the Agouti gene in development?

scientific article published in June 2011

Ex vivo culture of mouse embryonic skin and live-imaging of melanoblast migration

scientific article

Ex vivo live imaging of melanoblast migration in embryonic mouse skin

scientific article published on 7 January 2010

Expanded Analysis of Pigmentation Genetics in UK Biobank

Expression of the fras1/frem gene family during zebrafish development and fin morphogenesis

scientific article published in November 2008

Fam151b, the mouse homologue of C.elegans menorin gene, is essential for retinal function

scientific article published on 16 January 2020

Fucci2a: a bicistronic cell cycle reporter that allows Cre mediated tissue specific expression in mice

scientific article published on January 2014

Functional Properties of Cloned Melanogenic Proteins ⬇️

scientific article published on November 1, 1992

Functional variation of MC1R alleles from red-haired individuals.

scientific article

GABAergic amacrine cells and visual function are reduced in PAC1 transgenic mice.

scientific article published on 9 July 2009

GENETICS: -Defensin Repertoire Expands

scientific article published in Science

Genetic background influences age-related decline in visual and nonvisual retinal responses, circadian rhythms, and sleep

scientific article

Genetic background modifies vulnerability to glaucoma-related phenotypes in Lmx1b mutant mice

Genetic determinants of hair and eye colours in the Scottish and Danish populations.

scientific article

Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability

scientific article published in Nature Communications

Genomic anatomy of the Tyrp1 (brown) deletion complex

scholarly article

Genomic localization of a Dct-LacZ transgene locus: a simple assay for transgene status.

scientific article

Genotype-phenotype correlation of mouse pde6b mutations

scientific article published in September 2005

Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development

scientific article

HEATR2 plays a conserved role in assembly of the ciliary motile apparatus ⬇️

scientific article

Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome.

scientific article published on 18 May 2004

Homologous pigmentation mutations in human, mouse and other model organisms.

scientific article

How the leopard gets its spots: a transmembrane peptidase specifies feline pigmentation patterns

scientific article

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis

scientific article

Human beta-defensin 3 has immunosuppressive activity in vitro and in vivo

scientific article published on April 2010

Humanized MC1R transgenic mice reveal human specific receptor function

scientific article published on 25 July 2007

Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs

scientific article (publication date: May 2005)

Initial sequencing and comparative analysis of the mouse genome

scientific article

Investigating the genetic architecture of eye colour in a Canadian cohort

Involvement of the melanocortin-1 receptor in acute pain and pain of inflammatory but not neuropathic origin

scientific article

KDM3A coordinates actin dynamics with intraflagellar transport to regulate cilia stability

scientific article published on 28 February 2017

Kdm3a lysine demethylase is an Hsp90 client required for cytoskeletal rearrangements during spermatogenesis

scientific article published on 19 February 2014

Large-scale analysis of gene structure in rhodopsin-like GPCRs: evidence for widespread loss of an ancient intron

scientific article published in August 2004

Light is a dominant mouse mutation resulting in premature cell death

article by R. Johnson & I. J. Jackson published June 1992 in Nature Genetics

Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

scientific article published on 11 March 2014

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

scientific article (publication date: July 2011)

MGF (KIT Ligand) Is a Chemokinetic Factor for Melanoblast Migration into Hair Follicles

Maintenance of distinct melanocyte populations in the interfollicular epidermis

scientific article published on 30 April 2015

Mapping in the region of Danforth's short tail and the localization of tail length modifiers.

scientific article published in February 1997

Mapping of the human globin genes ⬇️

scientific article published on November 1, 1980

Melanocortin 1 receptor variants in an Irish population

scientific article (publication date: July 1998)

Melanocortin-1-receptor gene and sun sensitivity in individuals without red hair

scientific article published in The Lancet

Missense Mutations in the Human Nanophthalmos Gene TMEM98 Cause Retinal Defects in the Mouse: Supplemental Information

article

Molecular biology. Transposable elements and suppressor genes.

scientific article published in June 1984

Molecular cloning and sequence analysis of a chicken cDNA encoding tyrosinase-related protein-2/DOPAchrome tautomerase ⬇️

scientific article published on September 28, 1998

Molecular genetics of the brown (b)-locus region of mouse chromosome 4. I. Origin and molecular mapping of radiation- and chemical-induced lethal brown deletions.

scientific article

More to colour than meets the eye

scientific article published on 01 August 1993

Mouse coat colour mutations: a molecular genetic resource which spans the centuries.

scientific article published on September 1991

Mouse genomic variation and its effect on phenotypes and gene regulation

scientific article (publication date: 14 September 2011)

Mouse mutations cause retinal degeneration and reduced mitochondrial function

scientific article published on 18 December 2018

Mouse slc9a8 mutants exhibit retinal defects due to retinal pigmented epithelium dysfunction

scientific article

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome

scientific article published on May 2013

Neural crest progenitors of the melanocyte lineage: coat colour patterns revisited

scientific article published on 01 July 2002

Novel ENU-induced eye mutations in the mouse: models for human eye disease

scientific article

Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.

scientific article

P-Rex1 is required for efficient melanoblast migration and melanoma metastasis

scientific article

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins ⬇️

scientific article published on 10 April 2017

Palmitoylation regulates epidermal homeostasis and hair follicle differentiation

scientific journal article

Peroxidase activity in the ink gland of Sepia officinalis and partial nucleotide sequence of a candidate cDNA encoding the enzyme ⬇️

scientific article published on March 15, 1995

Phenotypic rescue of mutant brown melanocytes by a retrovirus carrying a wild-type tyrosinase-related protein gene

article

Pigmentary Diversity: Identifying the genes causing human diversity

article

Presence of visual head tracking differentiates normal sighted from retinal degenerate mice

scientific article published in May 2002

Production of mouse Hox-2.1 protein in Escherichia coli: characterisation of in vitro binding to DNA

scientific article published on 01 September 1991

Rac1 drives melanoblast organization during mouse development by orchestrating pseudopod- driven motility and cell-cycle progression

scientific article

Reconciling diverse mammalian pigmentation patterns with a fundamental mathematical model

scientific article (publication date: 2016)

Regulation of pigmentation in zebrafish melanophores

scientific article

Reverse Genetics in the Mouse and Its Application to the Study of Deafness

article

Rules and guidelines for mouse gene, allele, and mutation nomenclature: a condensed version

scientific article

Sequence characterization of teleost fish melanocortin receptors

scientific article

Signatures of diversifying selection in European pig breeds.

scientific article

Sooty foot, a novel mouse mutation that affects the pigmentation of exposed skin, but not hair, maps to Chromosome 2

scientific article published on 01 September 1997

Spinster homolog 2 (spns2) deficiency causes early onset progressive hearing loss

scientific article

TRP-2/DT, a new early melanoblast marker, shows that steel growth factor (c-kit ligand) is a survival factor ⬇️

scientific article published on August 1, 1992

The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma

scientific article published on 01 October 1996

The Dct -/- mouse model to unravel retinogenesis misregulation in patients with albinism

The European dimension for the mouse genome mutagenesis program

scientific article

The G-netics of dark skin

The Isolation, Mapping and Transcription in vitro of a beta0-Thalassaemia Globin Gene

article

The Mouse Cer1 (Cerberus related or homologue) Gene Is Not Required for Anterior Pattern Formation

article

The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype

scientific article

The absence of introns within a human fibroblast interferon gene.

scientific article

The cloning and sequencing of a cDNA coding for chick tyrosinase-related protein-1 ⬇️

scientific article published on January 7, 1998

The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis

scientific article

The freestyle pedicle perforator flap: a new favorite for the reconstruction of moderate-sized defects of the torso and extremities

scientific article

The goya mouse mutant reveals distinct newly identified roles for MAP3K1 in the development and survival of cochlear sensory hair cells.

scientific article published on 5 November 2015

The mahogany mouse mutation: further links between pigmentation, obesity and the immune system.

scientific article

The melanocyte lineage in development and disease

scientific article

The melanocyte lineage in development and disease

scientific article published on April 2015

The murine Hox-2 cluster of homeo box containing genes maps distal on chromosome 11 near the tail-short ( Ts ) locus

article

The nanophthalmos protein TMEM98 inhibits MYRF self-cleavage and is required for eye size specification

scientific article published on 01 April 2020

The physiological and phenotypic determinants of human tanning measured as change in skin colour following a single dose of ultraviolet B radiation

scientific article published on July 2010

The promises and problems of linkage analysis by using the current canine genome map.

scientific article

The retinal pigmented epithelium is required for development and maintenance of the mouse neural retina

article

The structure and evolution of the melanocortin and MCH receptors in fish and mammals

scientific article

Wa5 is a novel ENU-induced antimorphic allele of the epidermal growth factor receptor

scientific article published in July 2004

Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation

scientific article

What do the regulators regulate? First glimpses downstream ⬇️

scientific article published on March 1, 1991

White-based brown (Tyrp1B-w) is a dominant mutation causing reduced hair pigmentation owing to a chromosomal inversion.

scientific article published in June 1998

Widespread tangential dispersion and extensive cell death during early neurogenesis in the mouse neocortex

scientific article published on 01 March 2004

mc1r Pathway regulation of zebrafish melanosome dispersion

scientific article

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