Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

cyclin D binding myb like transcription factor 1

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.

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.

Phenotype associated images not available

Human diseases caused by Dmtf1 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 Dmtf1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Megacystis, Seizure, Polyuria, Short stature OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Megacystis, Seizure, Polyuria, Short stature OMIM:304800
Short stature, Megacystis, Abnormality of the urinary system, Seizure ORPHA:977
Brain-Lung-Thyroid Syndrome
Growth delay, Megacystis, Abnormal eating behavior, Myoclonus, Intention tremor, Vesicoureteral r... ORPHA:209905
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Lymphoma, Decreased CD4:CD8 ratio, Decreas... OMIM:300853
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis OMIM:619365
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis, Neoplasm of the heart, Cryptorchidism ORPHA:2241
Visceral Myopathy 2
Barrett esophagus, Dysphagia, Megacystis OMIM:619350
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... OMIM:267500
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno... OMIM:607271
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Familial Visceral Myopathy
Hyperparathyroidism, Vesicoureteral reflux, Hydroureter, Megacystis ORPHA:2604
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Lymphoma, Decre... OMIM:240500
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Duplicated collecting system, Hydroureter, Ureterocele, Megacystis, Renal agenesis, Decreased res... OMIM:604292
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... OMIM:615615
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis, Seizure OMIM:607624
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Abnorm... OMIM:617514
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Visceral Myopathy 1
Urinary retention, Megacystis, Vesicoureteral reflux, Hydronephrosis, Dysphagia OMIM:155310
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Hydroureter, Megacystis OMIM:619431
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Reduced delayed hypersensitivity, Decreased proportion of CD8-po... OMIM:617241
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, ... OMIM:601859
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Fetal megacystis OMIM:619351
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Increased circulating IgA level, Nephrotic syndrome, Autoimmune thrombocy... OMIM:603909
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Lymphopenia, Focal hemiclonic seizure, Abnormal l... ORPHA:1830
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Hodgkin ... OMIM:208900
Megabladder, Congenital
Fetal megacystis, Stage 5 chronic kidney disease, Multiple glomerular cysts, Hyperechogenic kidneys OMIM:618719
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Multiple bladder diverticula, Postnatal growth retardation, Intrauterine growth re... ORPHA:2728
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Lack of T cell function, Increased circulating IgE level, ... ORPHA:277
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased urinary urate, Impaired T ce... OMIM:613179
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Lymph... ORPHA:169154
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Abnormality ... ORPHA:2237
Nephronophthisis 9
Nephronophthisis, Polydipsia, Postnatal growth retardation, Stage 5 chronic kidney disease, Polyu... OMIM:613824
Obesity Due To Congenital Leptin Deficiency
Decreased testicular size, Decreased proportion of CD4-positive helper T cells, Decreased T cell ... ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Decreased testicular size, Decreased proportion of CD4-positive helper T cells, Decreased T cell ... ORPHA:179494
Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Decreased proportion of CD4... ORPHA:443811
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Intrauterine growth retardation, Multicystic kidney dysplasia, Cryptorchidism, Fetal megacystis ORPHA:73246
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Proximal tubulopathy, Decreased specific anti-polysaccharide antibody ... OMIM:614576
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased lymphocyte proliferation in response to mitogen, Abnormal CD4:CD8 ratio, Lack of T cell... ORPHA:572
Immunodeficiency 96
Decreased circulating IgG level, Multicystic kidney dysplasia, Increased mean corpuscular volume,... OMIM:619774
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:308230
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Hypogonadism, Decreased testicular size, Splenomegaly, Tremor, Short st... OMIM:201100
Vici Syndrome
Cutaneous anergy, Decreased circulating IgG level, Seizure, Postnatal growth retardation, Lymphop... OMIM:242840
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... OMIM:600802
Wiskott-Aldrich Syndrome
Nephropathy, Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody leve... OMIM:301000
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... OMIM:242700
Immunodeficiency 58
Verrucae, Cutaneous abscess, Decreased specific antibody response to vaccination, Decreased T cel... OMIM:618131
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Occipital Horn Syndrome
Seizure, Ureteral obstruction, Hydronephrosis, Bladder diverticulum, Exostoses, Pelvic bone exost... OMIM:304150
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent urinary tract infections, Hepatocellular carcinoma, De... OMIM:300755
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Myoclonic seizure, Anoperineal fistula, Hypochromic anemia, Increased circulating IgE level, Leuk... OMIM:618213
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Duplicated collecting system, Hydroureter, Ureterocele, Renal agenesis, Decreased response to gro... OMIM:129900
Pseudoleprechaunism Syndrome, Patterson Type
Bladder diverticulum, Bilateral tonic-clonic seizure, Atonic seizure ORPHA:2976
Hereditary Orotic Aciduria
Aminoaciduria, Impaired T cell function, Oroticaciduria, Abnormality of the ureter, Splenomegaly,... ORPHA:30
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Impaired T cell function, Oroticaciduria, Anisocytosis,... OMIM:258900
Acro-Renal-Ocular Syndrome
Horseshoe kidney, Postnatal growth retardation, Crossed fused renal ectopia, Vesicoureteral reflu... ORPHA:959
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Neonatal death, Hydroureter, Fetal megacystis OMIM:619362
Menkes Disease
Exostoses, Bladder diverticulum, Intrauterine growth retardation, Seizure ORPHA:565
T-Cell Immunodeficiency With Thymic Aplasia
Decreased lymphocyte proliferation in response to mitogen, Recurrent urinary tract infections, De... ORPHA:83471
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent urinary tract infections, Panhypogammaglobulinemia, Agammaglobulinemi... OMIM:209920
Williams Syndrome
Cryptorchidism, Overfriendliness, Polycystic ovaries, Precocious puberty, Cholelithiasis, Renal i... ORPHA:904
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Bladder diverticulum OMIM:617821
Velocardiofacial Syndrome
Impaired T cell function, Cryptorchidism, Aggressive behavior, Hypoparathyroidism, Short stature OMIM:192430
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Multiple bladder diverticula, Hydronephrosis, Hypoplasia of the thymus, Growth ... OMIM:613177
Patent Urachus
Recurrent urinary tract infections, Cystocele, Patent urachus, Congenital posterior urethral valv... ORPHA:431341
Autosomal Recessive Cutis Laxa Type 1
Multiple bladder diverticula, Urethral diverticulum, Recurrent urinary tract infections, Intraute... ORPHA:90349
Occipital Horn Syndrome
Bladder diverticulum, Dysphagia, Exostoses, Recurrent urinary tract infections ORPHA:198
Williams-Beuren Syndrome
Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Intrauterine growth retar... OMIM:194050
Cutis Laxa, Autosomal Recessive, Type Ia
Bladder diverticulum OMIM:219100
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Annular pancreas, Dilatation of the renal pelvis, Dilatation of the bladder, Neonata... OMIM:265380
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function, Chordee, Delayed puberty, Short stature, Hypospadias OMIM:176690
22Q11.2 Deletion Syndrome
Cholelithiasis, Renal hypoplasia, Seizure, Abnormality of the uterus, Impaired T cell function, I... ORPHA:567
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Postnatal growth retardation, Pyelonephritis, Intrauterine growth reta... ORPHA:90348
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Pancytopenia, Abnormality of T cell physiology, Splenomegaly,... OMIM:181000
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Bladder diverticulum, Incre... OMIM:225400
Digeorge Syndrome
Unilateral renal agenesis, Cholelithiasis, Parathyroid hypoplasia, Seizure, Impaired T cell funct... OMIM:188400
Kyphoscoliotic Ehlers-Danlos Syndrome
Short stature, Bladder diverticulum ORPHA:536545
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Bladder diverticulum OMIM:614557
Classical Ehlers-Danlos Syndrome
Bladder diverticulum, Cervical insufficiency, Uterine prolapse ORPHA:287
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Peno... OMIM:618280
Vascular Ehlers-Danlos Syndrome
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Bladder diverticulum, Short stature... ORPHA:286


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 Dmtf1

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 Dmtf1.

No publications found that use IMPC mice or data for Dmtf1.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Dmtf1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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