Gene Summary

DOT1 like histone lysine methyltransferase
KMT4,  mDot1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal retina vasculature morphology Dot1ltm1a(KOMP)Wtsi HET Early adult 5.45×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images

View all 181 images

Human diseases caused by Dot1l mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dot1l by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Cardiomegaly OMIM:227150
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Int... OMIM:620135
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Congenital Toxoplasmosis
Hepatomegaly, Intrauterine growth retardation, Cardiomegaly ORPHA:858
Mulibrey Nanism
Hepatomegaly, Short stature, Cardiomegaly, Myocardial fibrosis, Growth delay, Pericardial constri... OMIM:253250
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Patent ductus arteriosus, Atri... OMIM:618652
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614702
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... OMIM:239850
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... ORPHA:3092
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Infantile Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:269920
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... OMIM:300280
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Cardiomegaly OMIM:618838
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo... OMIM:601005
Neuraminidase Deficiency
Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:256550
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morphology, Right v... ORPHA:2041
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy OMIM:212140
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly ORPHA:615
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Azoospermia, Cardiomyopathy, Testicular atrophy OMIM:235200
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Intrauterine growth ret... OMIM:617713
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiome... OMIM:616897
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Postnatal growth retardation, Short stature, Cardiomegaly OMIM:613320
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Attrv122I Amyloidosis
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... ORPHA:85451
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... ORPHA:324410
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Aortic valve atresia, Perimembrano... ORPHA:1457
Familial Aortic Dissection
Patent ductus arteriosus, Cardiomegaly ORPHA:229
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:201475
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Cryptorchidi... ORPHA:96191
Cantú Syndrome
Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus, Umbilical hernia, Hypert... ORPHA:1517
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Patent duc... ORPHA:3427
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Neonatal death, Intrauterine growth... OMIM:608013
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Short stature, Cardiomegaly, Splenomegaly, Patent ductus... OMIM:602782
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul... ORPHA:247691
Lethal Congenital Contracture Syndrome 10
Intrauterine growth retardation, Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly OMIM:266500
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Lethal Acantholytic Erosive Disorder
Intrauterine growth retardation, Cardiomyopathy, Cardiomegaly ORPHA:158687
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Umbilical hernia, Cryptorchidism, Cardiomegaly OMIM:618143
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Short stature, Cardiomegaly, Dilated cardiomyopathy, Gro... OMIM:614921
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Testicular atrophy ORPHA:465508
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosu... ORPHA:3384
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, Atrial septal defect, Left vent... ORPHA:79330
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Short stature, Rhizomelia, Cardiomegaly, Mitral valve prolapse, Atrial sep... OMIM:245600
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... ORPHA:57777
Absence Of The Pulmonary Artery
Cardiomegaly, Patent ductus arteriosus, Abnormal heart morphology, Growth delay, Abnormal cardiac... ORPHA:980
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly OMIM:105210
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly OMIM:608836
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... OMIM:300855
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Myelopathy, Splenomegaly, Growth delay, Severe postnatal growth retar... OMIM:252500
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:268800
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... OMIM:300967
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Renal tubular epithelial necrosis, Cardiomyopathy, Abnormal myocardiu... ORPHA:228308
Hepatomegaly, Cardiomegaly ORPHA:349
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Splenomegaly, Abnormal aortic valve m... ORPHA:581
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... ORPHA:95430
Splenomegaly, Hepatomegaly, Short stature, Cardiomegaly OMIM:230000
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Short stature, Cardiomegaly OMIM:208000
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly OMIM:619259
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:308552
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Bohring-Opitz Syndrome
Intrauterine growth retardation, Abnormal cardiac septum morphology, Short stature, Cardiomegaly ORPHA:97297
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Patent ductus arteriosus, Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly OMIM:620306
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hepatocellular necrosis OMIM:618278
Sickle Cell Disease
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:603903
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Glycogen Storage Disease Ii
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:232300
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... OMIM:619991
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Large placenta, Splenomegaly, Cryptorchidism, Umbilical hernia, Hyper... ORPHA:116
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... ORPHA:1677
Hepatomegaly, Cardiomegaly ORPHA:14
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:365
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:137675
Williams Syndrome
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... ORPHA:904
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Short stature, Cardiomegaly ORPHA:51
Yunis-Varon Syndrome
Ventricular septal defect, Short stature, Cardiomegaly, Postnatal growth retardation, Cryptorchid... ORPHA:3472
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney OMIM:130650
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Growth delay OMIM:256040
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... ORPHA:75565
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Singleton-Merten Syndrome 1
Mitral valve calcification, Short stature, Cardiomegaly, Aortic valve calcification, Subvalvular ... OMIM:182250
Generalized Arterial Calcification Of Infancy
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly ORPHA:51608


Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dot1l

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dot1l.

There are 26 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
DOT1L deletion impairs the development of cortical parvalbumin-expressing interneurons. Cerebral cortex (New York, N.Y. : 1991) (September 2023) Dot1ltm1c(KOMP)Wtsi PMC10545437
DOT1L regulates lung developmental epithelial cell fate and adult alveolar stem cell differentiation after acute injury. Stem cell reports (August 2023) Dot1ltm1c(KOMP)Wtsi Dot1ltm1a(KOMP)Wtsi 37595582
Generation and Characterization of a Transgenic Mouse That Specifically Expresses the Cre Recombinase in Spermatids. Genes (April 2023) Dot1ltm1c(KOMP)Wtsi PMC10217838
DOT1L regulates chamber-specific transcriptional networks during cardiogenesis and mediates postnatal cell cycle withdrawal. Nature communications (December 2022) Dot1ltm1c(KOMP)Wtsi Dot1ltm1a(KOMP)Wtsi 36460641
In vivo intra-articular contrast enhanced μCT imaging of mouse knee cartilage. Bone (November 2022) Dot1ltm1c(KOMP)Wtsi 36436817
DOT1L regulates lipid biosynthesis and inflammatory responses in macrophages and promotes atherosclerotic plaque stability. Cell reports (November 2022) Dot1ltm1c(KOMP)Wtsi Dot1ltm1a(KOMP)Wtsi 36417856
Histone methyltransferase DOT1L controls state-specific identity during B cell differentiation. EMBO reports (January 2021) Dot1ltm1a(KOMP)Wtsi PMC7857439
The Methyltransferase DOT1L Controls Activation and Lineage Integrity in CD4+ T Cells during Infection and Inflammation. Cell reports (December 2020) Dot1ltm1c(KOMP)Wtsi Dot1ltm1a(KOMP)Wtsi 33326781
The Histone Methyltransferase DOT1L Is Essential for Humoral Immune Responses. Cell reports (December 2020) Dot1ltm1c(KOMP)Wtsi Dot1ltm1a(KOMP)Wtsi 33326791
Maternal DOT1L is dispensable for mouse development. Scientific reports (November 2020) Dot1ltm1a(KOMP)Wtsi PMC7691351
Dot1l interacts with Zc3h10 to activate Ucp1 and other thermogenic genes. eLife (October 2020) Dot1ltm1a(KOMP)Wtsi PMC7661038
Cancer SLC43A2 alters T cell methionine metabolism and histone methylation. Nature (September 2020) Dot1ltm1c(KOMP)Wtsi PMC7486248
The histone methyltransferase DOT1L prevents antigen-independent differentiation and safeguards epigenetic identity of CD8+ T cells. Proceedings of the National Academy of Sciences of the United States of America (August 2020) Dot1ltm1c(KOMP)Wtsi Dot1ltm1a(KOMP)Wtsi PMC7456197
A trans-eQTL network regulates osteoclast multinucleation and bone mass. eLife (June 2020) Dot1ltm1a(KOMP)Wtsi PMC7351491
Differentiation and localization of interneurons in the developing spinal cord depends on DOT1L expression. Molecular brain (May 2020) Dot1ltm1c(KOMP)Wtsi PMC7260853
The Role of Dot1l in Prenatal and Postnatal Murine Chondrocytes and Trabecular Bone. JBMR plus (December 2019) Dot1ltm1c(KOMP)Wtsi PMC7017886
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Dot1ltm1a(KOMP)Wtsi PMC6671969
Conserved crosstalk between histone deacetylation and H3K79 methylation generates DOT1L-dose dependency in HDAC1-deficient thymic lymphoma. The EMBO journal (June 2019) Dot1ltm1c(KOMP)Wtsi Dot1ltm1a(KOMP)Wtsi PMC6627229
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Dot1ltm2a(KOMP)Wtsi PMC6459510
DOT1L promotes progenitor proliferation and primes neuronal layer identity in the developing cerebral cortex. Nucleic acids research (January 2019) Dot1ltm1c(KOMP)Wtsi PMC6326801
Increased susceptibility to develop spontaneous and post-traumatic osteoarthritis in Dot1l-deficient mice. Osteoarthritis and cartilage (December 2018) Dot1ltm1c(KOMP)Wtsi Dot1ltm1a(KOMP)Wtsi 30513362
Differential Methylation of H3K79 Reveals DOT1L Target Genes and Function in the Cerebellum In Vivo. Molecular neurobiology (October 2018) Dot1ltm1a(KOMP)Wtsi PMC6505521
The protective role of DOT1L in UV-induced melanomagenesis. Nature communications (January 2018) Dot1ltm1c(KOMP)Wtsi PMC5772495
An efficient method for generation of bi-allelic null mutant mouse embryonic stem cells and its application for investigating epigenetic modifiers. Nucleic acids research (December 2017) Dot1ltm1a(KOMP)Wtsi PMC5716182
DOT1L safeguards cartilage homeostasis and protects against osteoarthritis. Nature communications (June 2017) Dot1ltm1c(KOMP)Wtsi Dot1ltm1a(KOMP)Wtsi PMC5481839
Requirement for Dot1l in murine postnatal hematopoiesis and leukemogenesis by MLL translocation. Blood (February 2011) Dot1ltm1c(KOMP)Wtsi Dot1ltm1a(KOMP)Wtsi PMC3100687

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MGI Allele Allele Type Produced
Dot1ltm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Dot1ltm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Dot1ltm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dot1ltm3a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dot1ltm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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