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 specific pneumococcal antibody level, Defective T cell proliferation, Lymphoproliferati... OMIM:615897
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Short stature, Polydipsia, Megacystis, Seizure, Polyuria OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Short stature, Polydipsia, Megacystis, Seizure, Polyuria OMIM:304800
Seizure, Megacystis, Abnormality of the urinary system, Short stature ORPHA:977
Brain-Lung-Thyroid Syndrome
Hypospadias, Hypoparathyroidism, Abnormal drinking behavior, Growth delay, Short stature, Megacys... ORPHA:209905
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... OMIM:606719
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Hodgkin lymphoma, L... OMIM:300853
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Megacystis, Multicystic kidney dysplasia, Neoplasm of the heart, Cryptorchidism, Hydroureter ORPHA:2241
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis OMIM:619365
Visceral Myopathy 2
Barrett esophagus, Megacystis, Dysphagia OMIM:619350
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Neonatal death, Fetal megacystis, Megacystis, Hydroureter OMIM:619362
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Atresia Of Urethra
Patent urachus, Hydronephrosis, Renal dysplasia, Megacystis, Bladder fistula, Recurrent urinary t... ORPHA:105
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Reticular Dysgenesis
Lack of T cell function, Leukopenia, Impaired T cell function, Congenital agranulocytosis, Hypopl... OMIM:267500
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Hydronephrosis, Hypoplastic nipples, Renal agenesis, Urethral stenosis, ... OMIM:604292
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Familial Visceral Myopathy
Megacystis, Hydroureter, Hyperparathyroidism, Vesicoureteral reflux ORPHA:2604
Caspase 8 Deficiency
Short stature, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level,... OMIM:607271
Griscelli Syndrome, Type 2
Seizure, Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Visceral Myopathy 1
Hydronephrosis, Dysphagia, Urinary retention, Megacystis, Vesicoureteral reflux OMIM:155310
Bladder Diverticulum
Urethral sphincter sclerosis, Urinary hesitancy, Hematuria, Dysuria, Recurrent urinary tract infe... OMIM:109820
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Mediastinal lymphadenopathy, Increased ci... 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
Immunodeficiency, Common Variable, 2
Impaired T cell function, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating... OMIM:240500
Hodgkin lymphoma, Short stature, Decreased circulating IgA level, Leukemia, Defective B cell diff... OMIM:208900
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Follicular hype... OMIM:601859
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Anuria, Megacystis, Fetal megacystis, Pyelonephritis OMIM:619351
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Short stature, Impaired T cell function, Splenomegaly, Hypogonadism, Tremor, Decreased testicular... OMIM:201100
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Neutropenia in presence... OMIM:607594
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... OMIM:617241
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lack of T cell function, Increased circulating IgE level, Lymphopenia, T lymph... ORPHA:277
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Short stature, Seizure, Microscopic hemat... ORPHA:1830
Autoimmune Lymphoproliferative Syndrome, Type Iia
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:603909
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Intrauterine growth retardation, Small scrotum, Postnatal growth retardation, Multiple bladder di... ORPHA:2728
Megabladder, Congenital
Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease OMIM:618719
3-Methylglutaconic Aciduria, Type V
Hypospadias, Intrauterine growth retardation, Glutaric aciduria, Normochromic microcytic anemia, ... OMIM:610198
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Hypoparathyroidism, Hydronephrosis, Severe postnatal growth retardation, H... ORPHA:2237
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Increased circulating IgA level, Lymphadenopathy, Decreased lymphocyte proliferation... ORPHA:169154
Purine Nucleoside Phosphorylase Deficiency
Impaired T cell function, Neutropenia in presence of anti-neutropil antibodies, Lymph node hypopl... OMIM:613179
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased T cell activation, Decre... ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased T cell activation, Decre... ORPHA:179494
Neutropenia, Short stature, Neutropenia in presence of anti-neutropil antibodies, Reduced antigen... ORPHA:443811
Posterior Urethral Valve
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... ORPHA:93110
Congenital Disorder Of Glycosylation, Type Iil
Intrauterine growth retardation, Pancytopenia, Growth delay, Impaired T cell function, Proximal t... OMIM:614576
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Fetal megacystis, Intrauterine growth retardation ORPHA:73246
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-neu... ORPHA:572
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lack of T cell fun... ORPHA:35078
Immunodeficiency With Hyper-Igm, Type 1
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:308230
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Decreased lymphocyt... OMIM:600802
X-Linked Lymphoproliferative Disease
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells,... ORPHA:2442
Vici Syndrome
Growth delay, Cutaneous anergy, Decreased circulating IgG level, Seizure, Decreased T cell activa... OMIM:242840
Pseudoleprechaunism Syndrome, Patterson Type
Bladder diverticulum, Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Immunodeficiency 58
Dysphagia, Decreased specific antibody response to vaccination, Short stature, Recurrent cutaneou... OMIM:618131
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Hydronephrosis, Hypoplastic nipples, Renal agenesis, Rectovaginal fistul... OMIM:129900
Acro-Renal-Ocular Syndrome
Horseshoe kidney, Renal malrotation, Renal hypoplasia/aplasia, Crossed fused renal ectopia, Postn... ORPHA:959
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Increased circulating IgA level... OMIM:600903
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Bladder diverticulum OMIM:223330
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Hereditary Orotic Aciduria
Abnormality of the ureter, Oroticaciduria, Impaired T cell function, Anemia, Orotic acid crystall... ORPHA:30
Progeroid Short Stature With Pigmented Nevi
Hypospadias, Short stature, Impaired T cell function, Chordee, Premature ovarian insufficiency, N... OMIM:176690
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Aplasia of the thymus, Reduced delayed hypersensitivity, Hepatospleno... OMIM:242700
Orotic Aciduria
Hypochromia, Oroticaciduria, Impaired T cell function, Hematuria, Orotic acid crystalluria, Aniso... OMIM:258900
Menkes Disease
Seizure, Intrauterine growth retardation, Bladder diverticulum, Exostoses ORPHA:565
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Myoclonic seizure, Focal impaired a... OMIM:618213
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Neutropenia, Cutaneous anergy, Recurrent urinary tract infections, Panhypogam... OMIM:209920
Cutis Laxa, Autosomal Recessive, Type Ic
Hydronephrosis, Growth delay, Bladder diverticulum OMIM:613177
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Bladder diverticulum OMIM:617821
Autosomal Recessive Cutis Laxa Type 1
Intrauterine growth retardation, Pyelonephritis, Urethral diverticulum, Recurrent urinary tract i... ORPHA:90349
Thymic Aplasia
Decreased proportion of naive T cells, Lymphadenopathy, Coombs-positive hemolytic anemia, Decreas... ORPHA:83471
Occipital Horn Syndrome
Ureteral obstruction, Hydronephrosis, Bladder carcinoma, Pelvic bone exostoses, Bladder diverticulum OMIM:304150
Cutis Laxa, Autosomal Recessive, Type Ia
Bladder diverticulum OMIM:219100
Williams Syndrome
Short stature, Hypercalciuria, Abnormality of the bladder, Renovascular hypertension, Nephrocalci... ORPHA:904
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Bladder diverticulum OMIM:614557
Occipital Horn Syndrome
Recurrent urinary tract infections, Dysphagia, Bladder diverticulum, Exostoses ORPHA:198
Autosomal Dominant Cutis Laxa
Intrauterine growth retardation, Pyelonephritis, Postnatal growth retardation, Unilateral renal a... ORPHA:90348
Kyphoscoliotic Ehlers-Danlos Syndrome
Short stature, Bladder diverticulum ORPHA:536545
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Bladder diverticulum OMIM:225400
Williams-Beuren Syndrome
Renal hypoplasia, Intrauterine growth retardation, Urethral stenosis, Nephrocalcinosis, Short sta... OMIM:194050
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Hydronephrosis, Asplenia, Annular pancreas, Neonatal death, Bicornuate uterus, Dilat... OMIM:265380
22Q11.2 Deletion Syndrome
Hypospadias, Renal hypoplasia, Hypoparathyroidism, Intrauterine growth retardation, Short stature... ORPHA:567
Velocardiofacial Syndrome
Cryptorchidism, Hypoparathyroidism, Short stature, Impaired T cell function OMIM:192430
Cardiac-Urogenital Syndrome
Patent urachus, Aplasia of the uterus, Bifid scrotum, Accessory spleen, Micropenis, Ambiguous gen... OMIM:618280
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Mediastinal lymphadenopathy, Splenomegaly, Increased circulat... OMIM:181000
Digeorge Syndrome
Hydronephrosis, Short stature, Impaired T cell function, Renal dysplasia, Parathyroid agenesis, C... OMIM:188400
Classical Ehlers-Danlos Syndrome
Cervical insufficiency, Uterine prolapse, Bladder diverticulum ORPHA:287
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Short stature, Renovascular hypertension, Uterine prolapse, Cystoce... ORPHA:286
Vater/Vacterl Association
Hypospadias, Patent urachus, Hydronephrosis, Renal agenesis, Intrauterine growth retardation, Ren... OMIM:192350


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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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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