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Gene: Dmbx1 MGI:2153518

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
diencephalon/mesencephalon homeobox 1
Synonyms:
Otx3,  Dmbx1,  Mbx,  Atx,  Cdmx

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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 Dmbx1 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 Dmbx1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Weight loss, Increased serum serotonin, Neuroendocrine neopla... ORPHA:100083
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Carcinoma Of Esophagus
Obesity, Weight loss, Dysphagia ORPHA:70482
Chronic Hiccup
Weight loss, Abnormal eating behavior ORPHA:396
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Polyphagia, Hypogonadism OMIM:614962
Idiopathic Achalasia
Weight loss, Dysphagia ORPHA:930
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age ORPHA:356996
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Hyperactivity, Increased serum serotonin ORPHA:85288
Graves Disease, Susceptibility To, 1
Hyperactivity, Weight loss, Increased circulating free T3, Decreased thyroid-stimulating hormone ... OMIM:275000
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Type II diabetes mel... ORPHA:71529
Hereditary Central Diabetes Insipidus
Diabetes insipidus, Polydipsia, Weight loss ORPHA:30925
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Hyperinsulinemia, Obesity, Polyphagia OMIM:617885
Pulmonary Blastoma
Weight loss ORPHA:64741
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:66628
Acquired Central Diabetes Insipidus
Diabetes insipidus, Polydipsia, Weight loss ORPHA:95626
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:179494
Tuberculosis
Weight loss ORPHA:3389
Macrosomia Adiposa Congenita
Obesity, Polyphagia, Large for gestational age, Adrenocortical adenoma OMIM:248100
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss, Dysphagia ORPHA:2198
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Polyphagia OMIM:618406
Central Diabetes Insipidus
Failure to thrive, Polydipsia, Weight loss, Diabetes insipidus ORPHA:178029
Insulin Autoimmune Syndrome
Insulin-resistant diabetes mellitus, Weight loss, Hyperinsulinemic hypoglycemia ORPHA:411593
Medullary Thyroid Carcinoma
Weight loss, Nodular goiter, Pheochromocytoma, Elevated calcitonin, Dysphagia, Medullary thyroid ... ORPHA:1332
Growth Hormone Deficiency, Isolated Partial
Short stature, Postnatal growth retardation OMIM:615925
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Failure to thrive, Hyperactivity OMIM:609425
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Developmental And Epileptic Encephalopathy 43
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617113
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Weight lo... ORPHA:424
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Intrauterine growth retardation, Postnatal growth retardation OMIM:600546
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Hyperactivity, Agitation OMIM:309548
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Hyperactivity OMIM:274270
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Hyperactivity DECIPHER:39
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Pleural Mesothelioma
Weight loss, Dysphagia ORPHA:50251
Morm Syndrome
Hyperactivity, Truncal obesity ORPHA:75858
Juvenile Huntington Disease
Hyperactivity, Weight loss ORPHA:248111
Familial Gestational Hyperthyroidism
Hyperactivity, Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Weight lo... ORPHA:99819
Huntington Disease-Like 2
Weight loss ORPHA:98934
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Glycine Encephalopathy
Impulsivity, Hyperactivity, Restlessness OMIM:605899
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight, Decreased serum insulin-like growth factor 1, Elevated circ... OMIM:608747
Alexander Disease Type I
Failure to thrive, Cachexia, Dysphagia ORPHA:363717
Cidec-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Lipodystrophy, Decreased serum leptin, Decreased adi... ORPHA:435651
Lipe-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the neck, Decreased ... ORPHA:435660
Huntington Disease
Weight loss, Choking episodes, Alcoholism, Agitation, Polyphagia, Disinhibition, Decreased body m... ORPHA:399
Diencephalic Syndrome
Cachexia, Decreased body weight, Abnormality of the hypothalamus-pituitary axis ORPHA:1672
Oculopharyngodistal Myopathy
Impaired oropharyngeal swallow response, Weight loss, Oral-pharyngeal dysphagia ORPHA:98897
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Isaacs Syndrome
Weight loss ORPHA:84142
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Flexion contracture, Weight loss, Reduced subcutaneous adipose tissue, Cachexia, Type I diabetes ... ORPHA:1979
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hyperthyroidism, Weight loss, Increased circulating T4 concentration, Decreased thyroid-stimulati... OMIM:613239
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Decreased serum leptin, Decreased adiponectin level, Increased intraabdominal fat,... ORPHA:79085
Moynahan Syndrome
Cachexia, Hypogonadism ORPHA:2574
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Decreased serum leptin, Decreased adiponectin level, Lipodystrophy OMIM:615238
Intellectual Developmental Disorder, Autosomal Dominant 67
Hypothyroidism, Hyperactivity, Attention deficit hyperactivity disorder OMIM:619927
Anaplastic Thyroid Carcinoma
Weight loss, Nodular goiter, Anaplastic thyroid carcinoma, Dysphagia, Goiter ORPHA:142
Adrenocortical Carcinoma
Increased serum estradiol, Hyperaldosteronism, Weight loss, Increased circulating cortisol level,... ORPHA:1501
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Failure to thrive, Hyperactivity, Decreased response to growth hormone stimulation test OMIM:615286
Mulibrey Nanism
Cachexia ORPHA:2576
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Riboflavin Transporter Deficiency
Diabetes insipidus, Cachexia, Hypogonadism, Dysphagia ORPHA:97229
Classic Pantothenate Kinase-Associated Neurodegeneration
Attention deficit hyperactivity disorder, Weight loss, Dysphagia ORPHA:216866
Hypercalcemia, Infantile, 1
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss OMIM:143880
Hyperthyroidism, Nonautoimmune
Hyperactivity, Hyperthyroidism, Small for gestational age, Increased circulating T4 concentration... OMIM:609152
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Obesity, Polyphagia ORPHA:411515
Carney-Stratakis Syndrome
Paraganglioma, Weight loss, Dysphagia ORPHA:97286
Thymic Neuroendocrine Tumor
Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ... ORPHA:97289
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Failure to thrive, Weight loss ORPHA:33355
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder OMIM:301013
Christianson Syndrome
Cachexia, Arthrogryposis multiplex congenita, Dysphagia ORPHA:85278
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Pseudomyxoma Peritonei
Hernia, Weight loss ORPHA:26790
Erythrokeratodermia Variabilis
Diabetes mellitus, Weight loss ORPHA:317
Mitochondrial Neurogastrointestinal Encephalomyopathy
Weight loss, Cachexia, Hypergonadotropic hypogonadism, Dysphagia, Hypogonadotropic hypogonadism ORPHA:298
Hodgkin Lymphoma
Weight loss ORPHA:98293
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Precocious puberty, Decreased body weight OMIM:300958
Hirschsprung Disease
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss ORPHA:388
Huntington Disease-Like 2
Weight loss OMIM:606438
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Failure to thrive, Hyperactivity ORPHA:369939
Rett Syndrome
Failure to thrive, Increased serum leptin, Agitation ORPHA:778
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Flexion contracture ORPHA:157973
Oromandibular Dystonia
Weight loss, Dysphagia ORPHA:93958
Secondary Short Bowel Syndrome
Central hypothyroidism, Weight loss, Failure to thrive, Polyphagia, Primary hypothyroidism ORPHA:95427
Fatal Familial Insomnia
Weight loss, Dysphagia OMIM:600072
Female Restricted Epilepsy With Intellectual Disability
Impulsivity, Hyperactivity, Abnormal eating behavior ORPHA:101039
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Decreased body weight, Increased serum testosterone level, Weight loss, Diabeti... ORPHA:2298
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, Hyperactivity OMIM:619239
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Huntington Disease-Like 1
Restlessness, Weight loss ORPHA:157941
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes mellitus at p... OMIM:608594
Eosinophilic Fasciitis
Fasciitis, Weight loss, Cellulitis ORPHA:3165
Focal Myositis
Weight loss ORPHA:48918
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Contracture of the proximal interphalangeal joint of the 5th finger, Inguinal hern... OMIM:620141
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, I... ORPHA:280365
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism, Weight loss OMIM:188580
Zollinger-Ellison Syndrome
Multiple lipomas, Pituitary corticotropic cell adenoma, Weight loss, Increased circulating cortis... ORPHA:913
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Hypogonadism, Small for gestational age, Failure to thrive, Attention deficit hype... ORPHA:73272
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Eosinophilic Gastroenteritis
Weight loss, Dysphagia ORPHA:2070
Follicular Lymphoma
Weight loss ORPHA:545
Mast Cell Sarcoma
Weight loss ORPHA:66661
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Elevated circulating growth hormone concentration, Decreased serum insulin-like gr... ORPHA:85327
Aredyld Syndrome
Type II diabetes mellitus, Cachexia, Type I diabetes mellitus, Lipoatrophy, Abnormal dental ename... ORPHA:1133
13Q12.3 Microdeletion Syndrome
Hyperactivity, Camptodactyly, Failure to thrive, Congenital diaphragmatic hernia, Obesity ORPHA:412035
Pediatric-Onset Graves Disease
Hyperactivity, Increased circulating T4 concentration, Thyrotoxicosis with diffuse goiter, Increa... ORPHA:525731
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes mellitus at p... OMIM:269700
Pemphigus Vulgaris
Atypical scarring of skin, Weight loss ORPHA:704
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Hernia, Weight loss ORPHA:1842
Perry Syndrome
Disinhibition, Weight loss OMIM:168605
Thymic Carcinoma
Neoplasm of the thymus, Weight loss ORPHA:99868
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Pfapa Syndrome
Weight loss ORPHA:42642
Perry Syndrome
Weight loss ORPHA:178509
Generalized Pseudohypoaldosteronism Type 1
Glucocortocoid-insensitive primary hyperaldosteronism, Weight loss, Increased circulating renin l... ORPHA:171876
Flynn-Aird Syndrome
Type II diabetes mellitus, Abnormality of the thyroid gland, Cachexia, Primary adrenal insufficiency ORPHA:2047
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Acute Adrenal Insufficiency
Decreased circulating aldosterone level, Weight loss, Increased circulating ACTH level, Decreased... ORPHA:95409
Familial Glucocorticoid Deficiency
Precocious puberty, Decreased circulating aldosterone level, Weight loss, Decreased circulating d... ORPHA:361
Parathyroid Carcinoma
Chondrocalcinosis, Weight loss, Thyroid carcinoma, Abnormality of the parathyroid morphology, Ele... ORPHA:143
X-Linked Adrenoleukodystrophy
Hyperactivity, Adrenal insufficiency, Abnormality of adrenal physiology, Increased circulating AC... ORPHA:43
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss ORPHA:86884
X-Linked Creatine Transporter Deficiency
Hyperactivity, Cachexia ORPHA:52503
Addison Disease
Thymoma, Decreased circulating aldosterone level, Weight loss, Increased circulating ACTH level, ... ORPHA:85138
Short Syndrome
Weight loss, Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology ORPHA:3163
Bronchial Neuroendocrine Tumor
Increased circulating cortisol level, Weight loss, Increased circulating ACTH level, Increased se... ORPHA:97287
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Mcdonough Syndrome
Cachexia ORPHA:2471
Liposarcoma
Weight loss ORPHA:69078
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Cachexia, Flexion contracture, Arthrogryposis multiplex congenita OMIM:618186
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Gm1 Gangliosidosis
Oral aversion, Camptodactyly of finger, Weight loss, Failure to thrive, Inguinal hernia, Dysphagia ORPHA:354
Osteosarcoma
Weight loss ORPHA:668
Cap Polyposis
Weight loss ORPHA:160148
Hereditary Late-Onset Parkinson Disease
Agitation, Impulsivity, Weight loss, Dysphagia ORPHA:411602
Rhabdoid Tumor
Weight loss ORPHA:69077
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Hyperactivity, Hypogonadism, Cachexia, Inguinal hernia, Obesity ORPHA:85293
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Weight loss ORPHA:251071
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Weight loss, Paraganglioma ORPHA:94080
Isolated Succinate-Coq Reductase Deficiency
Knee flexion contracture, Weight loss ORPHA:3208
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Cachexia, Failure to thrive in infancy OMIM:616801
Renpenning Syndrome
Diabetes mellitus, Cachexia ORPHA:3242
Glossopharyngeal Neuralgia
Weight loss, Oral-pharyngeal dysphagia ORPHA:221098
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss, Cellulitis ORPHA:47
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Keppen-Lubinsky Syndrome
Flexion contracture, Failure to thrive, Decreased serum leptin, Generalized lipodystrophy, Lack o... OMIM:614098
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Immunodeficiency 27A
Weight loss OMIM:209950
Nodular Non-Suppurative Panniculitis
Panniculitis, Weight loss ORPHA:33577
Beta-Ketothiolase Deficiency
Oral aversion, Agitation, Weight loss ORPHA:134
Lynch Syndrome
Flexion contracture, Weight loss, Pituitary adenoma, Neoplasm of the thyroid gland, Attention def... ORPHA:144
Neuroendocrine Tumor Of The Colon
Carcinoid tumor, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100080
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Juvenile Amyotrophic Lateral Sclerosis
Lower-limb joint contracture, Cachexia, Upper-limb joint contracture, Dysphagia ORPHA:300605
Wolman Disease
Adrenal insufficiency, Adrenal calcification, Cachexia ORPHA:75233
Poems Syndrome
Hypothyroidism, Increased circulating prolactin concentration, Weight loss, Hypogonadism, Primary... ORPHA:2905
Classic Hodgkin Lymphoma
Weight loss ORPHA:391
Late-Onset Isolated Acth Deficiency
Weight loss, Decreased circulating ACTH level, Decreased circulating cortisol level, Pituitary ad... ORPHA:199299
Majeed Syndrome
Failure to thrive, Cachexia, Flexion contracture, Weight loss ORPHA:77297
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Vipoma
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... ORPHA:97282
Familial Colorectal Cancer Type X
Flexion contracture, Weight loss, Pituitary adenoma, Neoplasm of the thyroid gland, Attention def... ORPHA:440437
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Weight loss ORPHA:90003
Takayasu Arteritis
Weight loss ORPHA:3287
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Ppoma
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... ORPHA:97278
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Kaposi Sarcoma
Weight loss ORPHA:33276
Somatostatinoma
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... ORPHA:97283
Chronic Beryllium Disease
Weight loss ORPHA:133
Acute Promyelocytic Leukemia
Alcoholism, Weight loss ORPHA:520
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Weight loss, Testicular atrophy, Diabetes mellitus, Decreased serum testosterone ... ORPHA:465508
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Polyarteritis Nodosa
Weight loss ORPHA:767
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia ORPHA:2774
Multiple Endocrine Neoplasia Type 1
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Pituitary null cell ade... ORPHA:652
Leishmaniasis
Weight loss ORPHA:507
Wilson Disease
Failure to thrive, Weight loss, Increased body weight ORPHA:905
Neuroendocrine Tumor Of The Rectum
Carcinoid tumor, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Carcinoid tumor, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100082
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Knee flexion contracture, Hip contracture, Elbow flexion contracture, Cachexia, Severe failure to... ORPHA:371364
Atypical Werner Syndrome
Hyperinsulinemia, Decreased body weight, Hypogonadism, Type II diabetes mellitus, Failure to thri... ORPHA:79474
Grfoma
Increased circulating prolactin concentration, Neoplasm of the thymus, Parathyroid adenoma, Incre... ORPHA:97261
Nephroblastoma
Weight loss ORPHA:654
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Decreased serum leptin, Flexion contracture, Lipoatrophy OMIM:614008
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Cachexia ORPHA:42
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Weight loss ORPHA:514
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss, Dysphagia OMIM:603041
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Holocarboxylase Synthetase Deficiency
Weight loss ORPHA:79242
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Tetrasomy 12P
Cachexia ORPHA:884
Neuroendocrine Tumor Of Stomach
Weight loss, Increased circulating ACTH level, Atypical pulmonary carcinoid tumor, Increased seru... ORPHA:100075
Whipple Disease
Hypothyroidism, Cachexia, Polydipsia ORPHA:3452
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoinsulinemia, Weight loss ORPHA:2126
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Yao Syndrome
Weight loss OMIM:617321
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Weight loss, Thyroiditis, Type I diabetes mellitus, Failure to thrive, Delayed... OMIM:212750
Felty Syndrome
Weight loss, Cellulitis ORPHA:47612
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Precocious puberty in females, Elevated circulating 17-hydroxyprogesterone concentration, Decreas... ORPHA:90794
Eosinophilic Granulomatosis With Polyangiitis
Weight loss, Dysphagia ORPHA:183
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Rheumatoid Arthritis
Weight loss OMIM:180300
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss, Dysphagia ORPHA:1018
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Glucagonoma
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... ORPHA:97280
Polymyositis
Chondrocalcinosis, Weight loss ORPHA:732
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Euthyroid hyperthyroxinemia, Increased circulating gonadotropin level, ... ORPHA:91347
Primary Hepatic Neuroendocrine Carcinoma
Carcinoid tumor, Increased serum serotonin, Neuroendocrine neoplasm, Weight loss ORPHA:100085
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Pelizaeus-Merzbacher Disease
Cachexia, Failure to thrive in infancy ORPHA:702
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Erdheim-Chester Disease
Hypogonadotropic hypogonadism, Diabetes insipidus, Polydipsia, Weight loss ORPHA:35687
Loeffler Endocarditis
Weight loss ORPHA:75566
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Lymphoid Interstitial Pneumonia
Failure to thrive, Abnormality of connective tissue, Weight loss ORPHA:79128
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss, Paraganglioma of head and neck, Paraganglioma, Extraadrenal pheochromocytoma, Adrena... ORPHA:276621
Xfe Progeroid Syndrome
Enamel hypoplasia, Corneal scarring, Cachexia, Failure to thrive, Absence of subcutaneous fat OMIM:610965
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Maternal diabetes, Weight loss ORPHA:103918
Al Amyloidosis
Weight loss, Dysphagia ORPHA:85443
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Congenital Fiber-Type Disproportion Myopathy
Knee flexion contracture, Flexion contracture, Hip contracture, Weight loss, Elbow flexion contra... ORPHA:2020
Igg4-Related Aortitis
Weight loss ORPHA:449400
Ménétrier Disease
Weight loss ORPHA:2494
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Hereditary Pheochromocytoma-Paraganglioma
Weight loss, Elevated calcitonin, Paraganglioma of head and neck, Paraganglioma, Extraadrenal phe... ORPHA:29072
Silver-Russell Syndrome
Precocious puberty, Cachexia, Obesity, Failure to thrive in infancy, Premature adrenarche ORPHA:813
Klatskin Tumor
Weight loss ORPHA:99978
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Toxic Epidermal Necrolysis
Polydipsia, Weight loss, Dysphagia ORPHA:537
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Aicardi-Goutieres Syndrome 9
Failure to thrive, Hypothyroidism, Weight loss OMIM:619487
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Juvenile Dermatomyositis
Weight loss, Dysphagia ORPHA:93672
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Pneumocystosis
Weight loss ORPHA:723
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss, Dysphagia OMIM:607459
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cachexia ORPHA:217346
Isolated Permanent Neonatal Diabetes Mellitus
Lower-limb joint contracture, Reduced pancreatic beta cells, Neonatal insulin-dependent diabetes ... ORPHA:99885
Drug Reaction With Eosinophilia And Systemic Symptoms
Thyroiditis, Weight loss ORPHA:139402
Refractory Celiac Disease
Weight loss ORPHA:398063
Thymoma
Neoplasm of the thyroid gland, Weight loss ORPHA:99867
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Weight loss ORPHA:370348
Cystinosis, Nephropathic
Weight loss, Male hypogonadism, Primary hypothyroidism, Delayed puberty, Diabetes mellitus, Dysph... OMIM:219800
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Stevens-Johnson Syndrome
Weight loss, Dysphagia ORPHA:36426
Giant Cell Arteritis
Diabetes insipidus, Weight loss ORPHA:397
Budd-Chiari Syndrome
Weight loss ORPHA:131
Cushing Syndrome Due To Ectopic Acth Secretion
Pituitary corticotropic cell adenoma, Atypical pulmonary carcinoid tumor, Adrenal hyperplasia, Do... ORPHA:99889
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Weight loss ORPHA:85450
Oculopharyngodistal Myopathy 1
Weight loss, Dysphagia OMIM:164310
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Primary Myelofibrosis
Cachexia ORPHA:824
Primary Intestinal Lymphangiectasia
Weight loss ORPHA:90362
Histidinemia
Hyperactivity ORPHA:2157
Gallbladder Neuroendocrine Tumor
Neuroendocrine neoplasm, Weight loss ORPHA:100086
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Acrodysostosis With Multiple Hormone Resistance
Hyperactivity, Decreased response to growth hormone stimulation test, Hypogonadism, Elevated calc... ORPHA:280651
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Thyroid carcinoma, Cachexia, Hashimoto thyroiditis, Lipoma ORPHA:109
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic single thyroid nodule, Hyperthyroidism, Thyrotoxicosis with toxic multi... ORPHA:79102
Rett Syndrome
Cachexia OMIM:312750
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Familial Pancreatic Carcinoma
Diabetes mellitus, Weight loss ORPHA:1333
Ileal Neuroendocrine Tumor
Increased serum serotonin, Small intestine carcinoid, Weight loss ORPHA:100078
Jejunal Neuroendocrine Tumor
Increased serum serotonin, Small intestine carcinoid, Weight loss ORPHA:100077
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia OMIM:175500
Schwartz-Jampel Syndrome
Wrist flexion contracture, Decreased body weight, Hip contracture, Flexion contracture of toe, Ca... ORPHA:800
Cystic Echinococcosis
Weight loss ORPHA:400
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Immunodeficiency 31C
Hypothyroidism, Delayed puberty, Diabetes mellitus, Weight loss OMIM:614162
Anemia, Congenital Dyserythropoietic, Type Iv
Hypothyroidism, Weight loss OMIM:613673
Lysosomal Acid Lipase Deficiency
Weight loss, Cachexia, Primary adrenal insufficiency, Failure to thrive, Adrenal calcification ORPHA:275761
Polycythemia Vera
Weight loss ORPHA:729
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypothyroidism, Hyperthyroidism, Thyroiditis, Cachexia, Type I diabetes mellitus, Abnormality of ... ORPHA:37042
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Absence of subcutaneous fat, Pubertal developmental failure in females, Weig... ORPHA:740
Malignant Atrophic Papulosis
Weight loss ORPHA:679
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss ORPHA:20
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Enthesitis, Flexion contracture, Weight loss ORPHA:85408
Simple Cryoglobulinemia
Weight loss ORPHA:91139
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Malt Lymphoma
Abnormality of the thyroid gland, Weight loss ORPHA:52417
Mucolipidosis Type Ii
Knee flexion contracture, Hip contracture, Weight loss, Inguinal hernia, Umbilical hernia ORPHA:576
Trisomy 18
Camptodactyly of finger, Hernia, Cachexia, Congenital diaphragmatic hernia, Omphalocele ORPHA:3380
Pancreatoblastoma
Weight loss ORPHA:677
Familial Thrombocytosis
Weight loss ORPHA:71493
Pyomyositis
Weight loss ORPHA:764
Alveolar Echinococcosis
Weight loss, Abnormality of adrenal morphology ORPHA:284
Hermansky-Pudlak Syndrome
Weight loss, Abnormal dental enamel morphology ORPHA:79430
Seckel Syndrome
Cachexia, Abnormal dental enamel morphology ORPHA:808
Igg4-Related Retroperitoneal Fibrosis
Hashimoto thyroiditis, Weight loss ORPHA:49041
Nijmegen Breakage Syndrome
Cachexia, Attention deficit hyperactivity disorder ORPHA:647
Reactive Arthritis
Enthesitis, Weight loss ORPHA:29207
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Abnormality of the thyroid gland ORPHA:1969
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Microsporidiosis
Weight loss, Thyroiditis, Cachexia, Adrenocortical abnormality, Abnormality of the parathyroid gland ORPHA:2552
Castleman Disease
Weight loss ORPHA:160
Caroli Disease
Weight loss ORPHA:53035
Marfan Syndrome
Slender build, Inguinal hernia, Cachexia, Attention deficit hyperactivity disorder ORPHA:558
Q Fever
Weight loss ORPHA:781
Nocardiosis
Thyroiditis, Abnormality of the adrenal glands, Weight loss, Cellulitis ORPHA:31204
Riddle Syndrome
Weight loss ORPHA:420741
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Hepatocellular Carcinoma
Type II diabetes mellitus, Weight loss ORPHA:88673
Aicardi-Goutieres Syndrome 7
Hypothyroidism, Weight loss OMIM:615846
Chronic Graft Versus Host Disease
Fasciitis, Flexion contracture, Weight loss, Dysphagia ORPHA:99921
Primary Sclerosing Cholangitis
Thyroiditis, Type I diabetes mellitus, Weight loss ORPHA:171
Fanconi Anemia
Umbilical hernia, Hypogonadism, Abnormality of the hypothalamus-pituitary axis, Weight loss ORPHA:84
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Camurati-Engelmann Disease
Hypogonadism, Abnormal subcutaneous fat tissue distribution, Cachexia, Delayed puberty, Slender b... ORPHA:1328
Dermatomyositis
Chondrocalcinosis, Weight loss, Cellulitis ORPHA:221
Granulomatosis With Polyangiitis
Diabetes insipidus, Abnormality of the hypothalamus-pituitary axis, Weight loss ORPHA:900
Multiple Myeloma
Weight loss ORPHA:29073
Rat-Bite Fever
Weight loss ORPHA:31205
Juvenile Polyposis Of Infancy
Cachexia, Subcutaneous lipoma ORPHA:79076
Cockayne Syndrome
Enamel hypoplasia, Contractures of the large joints, Reduced subcutaneous adipose tissue, Cachexi... ORPHA:191
Choreoacanthocytosis
Hyperactivity, Weight loss, Dysphagia ORPHA:2388
Brucellosis
Small for gestational age, Failure to thrive, Weight loss ORPHA:1304
Igg4-Related Dacryoadenitis And Sialadenitis
Nodular goiter, Thyroiditis, Weight loss ORPHA:79078
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Norrie Disease
Cachexia, Failure to thrive, Delayed puberty, Diabetes mellitus, Attention deficit hyperactivity ... ORPHA:649
African Trypanosomiasis
Weight loss, Abnormality of circulating cortisol level, Abnormality of renin-angiotensin system, ... ORPHA:3385
Pulmonary Alveolar Microlithiasis
Weight loss ORPHA:60025
Postinfectious Vasculitis
Weight loss ORPHA:48435
Sarcoidosis
Hypothyroidism, Diabetes insipidus, Hyperthyroidism, Weight loss, Scarring, Abnormality of the ad... ORPHA:797
Behçet Disease
Weight loss ORPHA:117
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Proteus Syndrome
Diabetes insipidus, Neoplasm of the thymus, Abnormal subcutaneous fat tissue distribution, Cachex... ORPHA:744
Sarcoidosis, Susceptibility To, 1
Weight loss OMIM:181000
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Thyroiditis, Weight loss ORPHA:449395
Kikuchi-Fujimoto Disease
Weight loss ORPHA:50918
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Delayed puberty, Cachexia ORPHA:2072
Stickler Syndrome
Slender build, Cachexia, Abnormal dental enamel morphology ORPHA:828
Immunodeficiency 82 With Systemic Inflammation
Weight loss OMIM:619381
Tubulointerstitial Nephritis And Uveitis Syndrome
Chorioretinal scar, Weight loss ORPHA:91500
Goodpasture Syndrome
Weight loss OMIM:233450
Tropical Endomyocardial Fibrosis
Cachexia ORPHA:75565

Histopathology

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 Dmbx1

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 Dmbx1.

No publications found that use IMPC mice or data for Dmbx1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Dmbx1tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Dmbx1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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