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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Aids Wasting Syndrome
Anorexia, Cachexia, Weight loss, Abnormal gonadotropin-releasing hormone concentration ORPHA:90081
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
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
Anorexia, Adrenocorticotropic hormone excess, Oral-pharyngeal dysphagia, Inappropriate antidiuret... ORPHA:100083
Schizophrenia 15
Hyperactivity OMIM:613950
Mantle Cell Lymphoma
Anorexia, Weight loss ORPHA:52416
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Idiopathic Achalasia
Dysphagia, Weight loss ORPHA:930
Chronic Hiccup
Abnormal eating behavior, Weight loss ORPHA:396
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Polyphagia, Hypogonadism OMIM:614962
Undifferentiated Pleomorphic Sarcoma
Anorexia, Weight loss ORPHA:2023
Graves Disease
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Hyperactivity, Polyph... OMIM:275000
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Increased serum serotonin, Small for gestational age ORPHA:85288
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dysphagia, Impulsivity OMIM:620448
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Polyphagia, Obesity,... ORPHA:71529
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Pulmonary Blastoma
Weight loss ORPHA:64741
Hereditary Central Diabetes Insipidus
Polydipsia, Weight loss, Diabetes insipidus ORPHA:30925
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Obesity, Hyperinsulinemia, Polyphagia OMIM:617885
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Polyphagia, Aggressive behavior ORPHA:329249
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss, Diabetes insipidus ORPHA:95626
Morm Syndrome
Hyperactivity, Truncal obesity, Aggressive behavior ORPHA:75858
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
Central Diabetes Insipidus
Polydipsia, Anorexia, Diabetes insipidus, Failure to thrive, Weight loss ORPHA:178029
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Weight loss ORPHA:86893
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Failure to thrive, Motor stereotypy, Small for gestational age, Aggressive behavior OMIM:609425
Coffin-Siris Syndrome 8
Inguinal hernia, Hyperactivity, Failure to thrive, Self-injurious behavior, Aggressive behavior OMIM:618362
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Dysphagia, Weight loss ORPHA:2198
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Polyphagia OMIM:618406
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Weight loss, Insulin-resistant diabetes mellitus ORPHA:411593
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Agitation, Hyperactivity, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Goite... ORPHA:424
Huntington Disease
Agitation, Decreased body mass index, Oral-pharyngeal dysphagia, Compulsive behaviors, Polyphagia... ORPHA:399
Medullary Thyroid Carcinoma
Pheochromocytoma, Primary hyperparathyroidism, Elevated circulating calcitonin concentration, Nod... ORPHA:1332
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Compulsive behaviors, Hypothyroidism, Motor tics, Attention deficit hyperactivity ... OMIM:619927
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:617113
Glycine Encephalopathy 1
Hyperactivity, Restlessness, Impulsivity, Aggressive behavior OMIM:605899
Familial Gestational Hyperthyroidism
Agitation, Hyperactivity, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Goite... ORPHA:99819
Pleural Mesothelioma
Dysphagia, Weight loss ORPHA:50251
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hyperthyroid... OMIM:613239
Juvenile Huntington Disease
Hyperactivity, Weight loss ORPHA:248111
Huntington Disease-Like 2
Weight loss ORPHA:98934
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Lipe-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the neck, Decreased ... ORPHA:435660
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Alexander Disease Type I
Cachexia, Failure to thrive, Dysphagia ORPHA:363717
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Oculopharyngodistal Myopathy
Impaired oropharyngeal swallow response, Weight loss, Oral-pharyngeal dysphagia ORPHA:98897
Diencephalic Syndrome
Cachexia, Decreased body weight, Abnormality of the hypothalamus-pituitary axis ORPHA:1672
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Failure to thrive, Decreased response to growth hormone stimulation test, Aggressi... OMIM:615286
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior ORPHA:101039
Isaacs Syndrome
Weight loss ORPHA:84142
Cidec-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneous adipose tissue in limbs, Decrea... ORPHA:435651
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Lipodystrophy, Decreased adiponectin level,... ORPHA:79085
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Christianson Syndrome
Cachexia, Inappropriate laughter, Dysphagia, Motor stereotypy, Arthrogryposis multiplex congenita ORPHA:85278
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Lipoatrophy, Cachexia, Reduced subcutaneous adipose tissue, Flexion contracture, Lipodystrophy, W... ORPHA:1979
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Obesity, Inappropriate laughter, Polyphagia ORPHA:411515
Hyperthyroidism, Nonautoimmune
Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat... OMIM:609152
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Increased u... ORPHA:1501
Riboflavin Transporter Deficiency
Diabetes insipidus, Cachexia, Dysphagia, Hypogonadism, Aggressive behavior ORPHA:97229
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Obesity, Aggressive behavior OMIM:301013
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Nodular goiter, Dysphagia, Weight loss, Goiter ORPHA:142
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight, Elevated circulating growth hormone concentration, Decrease... OMIM:608747
Moynahan Syndrome
Cachexia, Hypogonadism ORPHA:2574
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Decreased serum leptin, Lipodystrophy, Decreased adiponectin level OMIM:615238
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... OMIM:619827
Mulibrey Nanism
Cachexia ORPHA:2576
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Weight loss OMIM:612075
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Slender build, Weight loss OMIM:613662
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Developmental Delay, Language Impairment, And Ocular Abnormalities
Inguinal hernia, Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attentio... OMIM:620141
Classic Pantothenate Kinase-Associated Neurodegeneration
Attention deficit hyperactivity disorder, Dysphagia, Weight loss ORPHA:216866
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Abnormal fear-induced behavior, Hyperactivity, Obesity, Aggressive behavior ORPHA:3077
Classic Hodgkin Lymphoma
Anorexia, Weight loss ORPHA:391
Bronchial Neuroendocrine Tumor
Anorexia, Pulmonary carcinoid tumor, Elevated circulating growth hormone concentration, Weight lo... ORPHA:97287
Benign Recurrent Intrahepatic Cholestasis
Anorexia, Weight loss ORPHA:65682
Thymic Neuroendocrine Tumor
Neoplasm of the endocrine system, Pancreatic islet cell adenoma, Neoplasm of the thymus, Primary ... ORPHA:97289
Hypercalcemia, Infantile, 1
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss OMIM:143880
Neuroendocrine Tumor Of The Colon
Anorexia, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss, Increased serum serot... ORPHA:100080
Rett Syndrome
Agitation, Stereotypical hand wringing, Failure to thrive, Motor stereotypy, Increased serum lept... ORPHA:778
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ... ORPHA:85327
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Failure to thrive, Aggressive behavior ORPHA:369939
Oromandibular Dystonia
Bruxism, Dysphagia, Weight loss ORPHA:93958
Familial Glucocorticoid Deficiency
Anorexia, Decreased circulating dehydroepiandrosterone concentration, Congenital hypothyroidism, ... ORPHA:361
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Failure to thrive, Weight loss ORPHA:33355
Carney-Stratakis Syndrome
Paraganglioma, Dysphagia, Weight loss ORPHA:97286
Perry Syndrome
Inappropriate behavior, Disinhibition, Weight loss OMIM:168605
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Immunodeficiency 27A
Anorexia, Weight loss OMIM:209950
Pseudomyxoma Peritonei
Hernia, Weight loss ORPHA:26790
Erythrokeratodermia Variabilis
Diabetes mellitus, Weight loss ORPHA:317
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Weight loss ORPHA:90003
Huntington Disease-Like 2
Weight loss OMIM:606438
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Hypergonadotropic hypogonadism, Dysphagia, Weight loss, Hypogonadotropic hypogonadism ORPHA:298
Hirschsprung Disease
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss ORPHA:388
Neuroendocrine Tumor Of The Rectum
Anorexia, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss, Increased serum serot... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss, Increased serum serot... ORPHA:100082
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Slender build, Motor stereotypy, Attention deficit hypera... OMIM:617600
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Flexion contracture ORPHA:157973
Acute Monoblastic/Monocytic Leukemia
Anorexia, Central hypothyroidism, Weight loss ORPHA:514
Secondary Short Bowel Syndrome
Primary hypothyroidism, Polyphagia, Central hypothyroidism, Failure to thrive, Weight loss ORPHA:95427
Fatal Familial Insomnia
Dysphagia, Weight loss OMIM:600072
Holocarboxylase Synthetase Deficiency
Anorexia, Weight loss ORPHA:79242
Leishmaniasis
Anorexia, Weight loss ORPHA:507
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Increased serum testosterone level, Increased body weight, Abnormality of body ... ORPHA:2298
Wilson Disease
Increased body weight, Failure to thrive, Weight loss, Hypersexuality, Aggressive behavior ORPHA:905
Cryptogenic Organizing Pneumonia
Anorexia, Weight loss ORPHA:1302
Huntington Disease-Like 1
Weight loss, Restlessness ORPHA:157941
Eosinophilic Fasciitis
Cellulitis, Fasciitis, Weight loss ORPHA:3165
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Failure to thrive OMIM:619239
Focal Myositis
Weight loss ORPHA:48918
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Decreased serum leptin, Polyphagia, Reduced subcutaneous adipose tissue, Lipody... OMIM:608594
Takayasu Arteritis
Anorexia, Weight loss ORPHA:3287
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Hyperactivity, Camptodactyly, Failure to thrive, Obesity, Self-m... ORPHA:412035
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipoatrophy, Loss of subcutaneous adipose tissue in limbs, Decreased serum leptin, Increased adip... ORPHA:280365
Late-Onset Isolated Acth Deficiency
Anorexia, Hypoparathyroidism, Decreased circulating ACTH concentration, Adrenocorticotropic hormo... ORPHA:199299
X-Linked Creatine Transporter Deficiency
Hyperactivity, Cachexia, Self-mutilation ORPHA:52503
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism, Weight loss OMIM:188580
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Eosinophilic Gastroenteritis
Dysphagia, Weight loss ORPHA:2070
Follicular Lymphoma
Weight loss ORPHA:545
Zollinger-Ellison Syndrome
Glucagonoma, Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Lipoma, Adr... ORPHA:913
Vipoma
Anorexia, Increased circulating gonadotropin level, Adrenocortical adenoma, Primary hyperparathyr... ORPHA:97282
X-Linked Adrenoleukodystrophy
Abnormality of adrenal physiology, Aggressive behavior, Hyperactivity, Disinhibition, Attention d... ORPHA:43
Aredyld Syndrome
Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Type II diabetes mellitus, Type I diabe... ORPHA:1133
Mast Cell Sarcoma
Weight loss ORPHA:66661
Ppoma
Anorexia, Increased circulating gonadotropin level, Adrenocortical adenoma, Primary hyperparathyr... ORPHA:97278
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Perry Syndrome
Weight loss ORPHA:178509
Ménétrier Disease
Anorexia, Weight loss ORPHA:2494
Neuroendocrine Tumor Of Stomach
Anorexia, Atypical pulmonary carcinoid tumor, Carcinoid tumor, Paraganglioma, Weight loss, Increa... ORPHA:100075
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Decreased serum leptin, Polyphagia, Reduced subcutaneous adipose tissue, Type I... OMIM:269700
Acute Adrenal Insufficiency
Anorexia, Delayed puberty, Adrenal hypoplasia, Androgen insufficiency, Increased circulating reni... ORPHA:95409
Thymic Carcinoma
Neoplasm of the thymus, Weight loss ORPHA:99868
Somatostatinoma
Anorexia, Increased circulating gonadotropin level, Adrenocortical adenoma, Primary hyperparathyr... ORPHA:97283
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Hernia, Weight loss ORPHA:1842
Pfapa Syndrome
Weight loss ORPHA:42642
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia, Elbow flexion contracture, Hip contracture, Knee flexion cont... ORPHA:371364
Generalized Pseudohypoaldosteronism Type 1
Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating renin level, Abnorma... ORPHA:171876
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Hyperactivity, Recurrent hand flapping, Hypothyroidism, Hyperthyroidism... ORPHA:449291
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Addison Disease
Anorexia, Delayed puberty, Hypoparathyroidism, Adrenal hypoplasia, Androgen insufficiency, Increa... ORPHA:85138
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Flynn-Aird Syndrome
Cachexia, Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gland ORPHA:2047
Grfoma
Anorexia, Increased circulating gonadotropin level, Adrenocortical adenoma, Pheochromocytoma, Neo... ORPHA:97261
Cronkhite-Canada Syndrome
Anorexia, Cachexia ORPHA:2930
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Hyperactivity, Cachexia, Camptodactyly of finger, Obesity, Hypogonadism, Aggress... ORPHA:85293
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Carcinoid tumor, Weight loss, Increased serum serotonin, Neuroendocrine neoplasm ORPHA:100085
Parathyroid Carcinoma
Polydipsia, Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone le... ORPHA:143
Polymyositis
Anorexia, Weight loss, Chondrocalcinosis ORPHA:732
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Neonatal death, Limb joint contracture, Flexion contracture, Arthrogryposis multiplex c... OMIM:618186
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss ORPHA:86884
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Short Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Lipodystrophy, Weight loss, Diabetes mellitus ORPHA:3163
Beta-Ketothiolase Deficiency
Anorexia, Agitation, Weight loss, Oral aversion ORPHA:134
Mcdonough Syndrome
Cachexia ORPHA:2471
Liposarcoma
Weight loss ORPHA:69078
Hereditary Late-Onset Parkinson Disease
Agitation, Weight loss, Dysphagia, Impulsivity ORPHA:411602
Isolated Succinate-Coq Reductase Deficiency
Weight loss, Knee flexion contracture ORPHA:3208
Non-Functioning Paraganglioma
Paraganglioma, Weight loss, Paraganglioma of head and neck ORPHA:94080
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Cachexia, Hip contracture, Failure to thrive in infancy OMIM:616801
Multiple Endocrine Neoplasia Type 1
Adrenocortical abnormality, Pheochromocytoma, Pituitary growth hormone cell adenoma, Pituitary co... ORPHA:652
Gerstmann-Straussler Disease
Weight loss, Aggressive behavior OMIM:137440
Gallbladder Neuroendocrine Tumor
Anorexia, Weight loss, Neuroendocrine neoplasm ORPHA:100086
Glossopharyngeal Neuralgia
Weight loss, Oral-pharyngeal dysphagia ORPHA:221098
Gm1 Gangliosidosis
Inguinal hernia, Camptodactyly of finger, Failure to thrive, Dysphagia, Weight loss, Oral aversion ORPHA:354
Renpenning Syndrome
Cachexia, Diabetes mellitus ORPHA:3242
Cap Polyposis
Weight loss ORPHA:160148
Aggressive Systemic Mastocytosis
Anorexia, Weight loss ORPHA:98850
Poems Syndrome
Abnormality of the endocrine system, Hypothyroidism, Primary adrenal insufficiency, Lipodystrophy... ORPHA:2905
Keppen-Lubinsky Syndrome
Generalized lipodystrophy, Decreased serum leptin, Lack of facial subcutaneous fat, Absence of su... OMIM:614098
X-Linked Agammaglobulinemia
Cellulitis, Failure to thrive, Weight loss ORPHA:47
Acute Promyelocytic Leukemia
Anorexia, Addictive alcohol use, Weight loss ORPHA:520
Rhabdoid Tumor
Weight loss ORPHA:69077
Osteosarcoma
Weight loss ORPHA:668
Rett Syndrome
Cachexia, Bruxism, Stereotypical hand wringing OMIM:312750
Familial Colorectal Cancer Type X
Neoplasm of the thyroid gland, Pituitary adenoma, Flexion contracture, Weight loss, Attention def... ORPHA:440437
8P23.1 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Congenital diaphragmatic hernia, Weight loss ORPHA:251071
Glucagonoma
Anorexia, Increased circulating gonadotropin level, Adrenocortical adenoma, Primary hyperparathyr... ORPHA:97280
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Chronic Beryllium Disease
Weight loss ORPHA:133
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Primary Myelofibrosis
Anorexia, Cachexia ORPHA:824
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Juvenile Amyotrophic Lateral Sclerosis
Lower-limb joint contracture, Cachexia, Dysphagia, Upper-limb joint contracture ORPHA:300605
Majeed Syndrome
Cachexia, Failure to thrive, Flexion contracture, Weight loss ORPHA:77297
Wolman Disease
Cachexia, Adrenal calcification, Adrenal insufficiency ORPHA:75233
Nodular Non-Suppurative Panniculitis
Panniculitis, Weight loss ORPHA:33577
Acrodermatitis Enteropathica
Anorexia, Failure to thrive, Weight loss ORPHA:37
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Cachexia OMIM:175500
Familial Pancreatic Carcinoma
Anorexia, Diabetes mellitus, Weight loss ORPHA:1333
Amyotrophic Lateral Sclerosis
Cachexia, Agitation, Dysphagia ORPHA:803
Peripheral Primitive Neuroectodermal Tumor
Anorexia, Precocious puberty, Weight loss ORPHA:370348
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Failure to thrive, Decreased serum leptin, Flexion contracture OMIM:614008
Kaposi Sarcoma
Weight loss ORPHA:33276
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Pemphigus Vulgaris
Atypical scarring of skin, Weight loss ORPHA:704
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia ORPHA:2774
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Anorexia, Cachexia, Abnormality of the thyroid gland ORPHA:1969
Symptomatic Form Of Hfe-Related Hemochromatosis
Testicular atrophy, Hypothyroidism, Weight loss, Diabetes mellitus, Hypogonadotropic hypogonadism... ORPHA:465508
Polyarteritis Nodosa
Weight loss ORPHA:767
Whipple Disease
Polydipsia, Cachexia, Hypothyroidism, Anorexia ORPHA:3452
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Distal arthrogryposis ORPHA:42
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Slender build, Dysphagia, Weight loss OMIM:603041
Nephroblastoma
Weight loss ORPHA:654
Aicardi-Goutieres Syndrome 9
Hypothyroidism, Failure to thrive, Self-mutilation, Weight loss OMIM:619487
Atypical Werner Syndrome
Delayed puberty, Neoplasm of the thyroid gland, Lipoatrophy, Hyperinsulinemia, Generalized lipody... ORPHA:79474
Giant Cell Arteritis
Anorexia, Weight loss, Diabetes insipidus ORPHA:397
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Celiac Disease, Susceptibility To, 1
Delayed puberty, Thyroiditis, Enamel hypoplasia, Failure to thrive, Weight loss, Type I diabetes ... OMIM:212750
Tetrasomy 12P
Cachexia ORPHA:884
Solitary Fibrous Tumor
Hypoinsulinemia, Weight loss ORPHA:2126
Eosinophilic Granulomatosis With Polyangiitis
Dysphagia, Weight loss ORPHA:183
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating ACTH level, Increased circulating androstenedione concentration, Premature ... ORPHA:90794
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Dysphagia, Weight loss ORPHA:1018
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Yao Syndrome
Weight loss OMIM:617321
Felty Syndrome
Cellulitis, Weight loss ORPHA:47612
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Increased body weight, Pulmonary carcinoid tumor, Adrenal hyperplasia, Medullar... ORPHA:99889
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Female hypogonadism, Hypogonadism, Central adrenal insufficiency, Thyroid crisis... ORPHA:91347
Rheumatoid Arthritis
Weight loss OMIM:180300
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Erdheim-Chester Disease
Polydipsia, Hypogonadotropic hypogonadism, Weight loss, Diabetes insipidus ORPHA:35687
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss, Abnormality of connective tissue ORPHA:79128
Sporadic Pheochromocytoma/Secreting Paraganglioma
Adrenal pheochromocytoma, Paraganglioma of head and neck, Paraganglioma, Weight loss, Extraadrena... ORPHA:276621
Xfe Progeroid Syndrome
Cachexia, Corneal scarring, Enamel hypoplasia, Failure to thrive, Absence of subcutaneous fat OMIM:610965
Pelizaeus-Merzbacher Disease
Cachexia, Failure to thrive in infancy ORPHA:702
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Hereditary Pheochromocytoma-Paraganglioma
Adrenal pheochromocytoma, Elevated circulating calcitonin concentration, Paraganglioma of head an... ORPHA:29072
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Elbow flexion contracture, Failure to thrive, Hip contracture, Flexion... ORPHA:2020
Loeffler Endocarditis
Weight loss ORPHA:75566
Igg4-Related Aortitis
Weight loss ORPHA:449400
Al Amyloidosis
Dysphagia, Weight loss ORPHA:85443
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Tropical Pancreatitis
Maternal diabetes, Weight loss, Insulin-dependent but ketosis-resistant diabetes ORPHA:103918
Toxic Epidermal Necrolysis
Polydipsia, Dysphagia, Weight loss ORPHA:537
Caroli Disease
Anorexia, Weight loss ORPHA:53035
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Weight loss ORPHA:20
Silver-Russell Syndrome
Cachexia, Precocious puberty, Obesity, Premature adrenarche, Failure to thrive in infancy ORPHA:813
Hermansky-Pudlak Syndrome
Anorexia, Abnormal dental enamel morphology, Weight loss ORPHA:79430
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Pneumocystosis
Weight loss ORPHA:723
Choreoacanthocytosis
Self-injurious behavior, Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-bangi... ORPHA:2388
Neuroblastoma
Elevated circulating catecholamine level, Weight loss ORPHA:635
Isolated Permanent Neonatal Diabetes Mellitus
Lower-limb joint contracture, Reduced pancreatic beta cells, Failure to thrive, Weight loss, Arth... ORPHA:99885
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Drug Reaction With Eosinophilia And Systemic Symptoms
Thyroiditis, Weight loss ORPHA:139402
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Klatskin Tumor
Weight loss ORPHA:99978
19Q13.11 Microdeletion Syndrome
Cachexia, Failure to thrive ORPHA:217346
Refractory Celiac Disease
Weight loss ORPHA:398063
Juvenile Dermatomyositis
Dysphagia, Weight loss ORPHA:93672
Igg4-Related Retroperitoneal Fibrosis
Anorexia, Hashimoto thyroiditis, Weight loss ORPHA:49041
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Dysphagia, Weight loss OMIM:607459
Stevens-Johnson Syndrome
Dysphagia, Weight loss ORPHA:36426
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Thymoma
Neoplasm of the thyroid gland, Weight loss ORPHA:99867
Q Fever
Anorexia, Weight loss ORPHA:781
Cystinosis, Nephropathic
Polydipsia, Delayed puberty, Male hypogonadism, Primary hypothyroidism, Failure to thrive, Dyspha... OMIM:219800
Oculopharyngodistal Myopathy 1
Dysphagia, Weight loss OMIM:164310
Microsporidiosis
Anorexia, Adrenocortical abnormality, Thyroiditis, Cachexia, Weight loss, Abnormality of the para... ORPHA:2552
Budd-Chiari Syndrome
Weight loss ORPHA:131
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Nocardiosis
Anorexia, Abnormality of the adrenal glands, Thyroiditis, Weight loss, Cellulitis ORPHA:31204
Lynch Syndrome
Neoplasm of the thyroid gland, Pituitary adenoma, Flexion contracture, Weight loss, Attention def... ORPHA:144
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goiter, Thyrotoxicos... ORPHA:79102
Hereditary Amyloidosis With Primary Renal Involvement
Weight loss, Hypogonadism ORPHA:85450
Primary Intestinal Lymphangiectasia
Weight loss ORPHA:90362
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Infantile Krabbe Disease
Cachexia, Failure to thrive ORPHA:206436
Bannayan-Riley-Ruvalcaba Syndrome
Thyroid carcinoma, Lipoma, Cachexia, Neoplasm of the adrenal cortex, Hashimoto thyroiditis ORPHA:109
Camurati-Engelmann Disease
Anorexia, Abnormal subcutaneous fat tissue distribution, Delayed puberty, Cachexia, Slender build... ORPHA:1328
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Weight loss OMIM:301310
Schwartz-Jampel Syndrome
Flexion contracture of toe, Inguinal hernia, Shoulder flexion contracture, Cachexia, Decreased bo... ORPHA:800
Immunodeficiency 31C
Delayed puberty, Diabetes mellitus, Hypothyroidism, Weight loss OMIM:614162
Cystic Echinococcosis
Weight loss ORPHA:400
Adult-Onset Still Disease
Weight loss ORPHA:829
Histidinemia
Hyperactivity ORPHA:2157
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormality of the endocrine system, Thyroiditis, Cachexia, Hypothyroidism, Hyperthyroidism, Fail... ORPHA:37042
Ileal Neuroendocrine Tumor
Weight loss, Increased serum serotonin, Small intestine carcinoid ORPHA:100078
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Lysosomal Acid Lipase Deficiency
Cachexia, Failure to thrive, Primary adrenal insufficiency, Weight loss, Adrenal calcification ORPHA:275761
Anemia, Congenital Dyserythropoietic, Type Iv
Hypothyroidism, Weight loss OMIM:613673
Pancreatoblastoma
Weight loss ORPHA:677
Malt Lymphoma
Weight loss, Abnormality of the thyroid gland ORPHA:52417
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Pubertal developmental failure in females, Decreased serum leptin, Dela... ORPHA:740
Mucolipidosis Type Ii
Inguinal hernia, Umbilical hernia, Hip contracture, Weight loss, Knee flexion contracture ORPHA:576
Malignant Atrophic Papulosis
Weight loss ORPHA:679
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Enthesitis, Flexion contracture, Weight loss ORPHA:85408
Trisomy 18
Congenital diaphragmatic hernia, Cachexia, Omphalocele, Camptodactyly of finger, Hernia ORPHA:3380
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Simple Cryoglobulinemia
Weight loss ORPHA:91139
Alveolar Echinococcosis
Abnormal adrenal morphology, Weight loss ORPHA:284
Familial Thrombocytosis
Weight loss ORPHA:71493
Pyomyositis
Weight loss ORPHA:764
Chronic Graft Versus Host Disease
Anorexia, Flexion contracture, Dysphagia, Weight loss, Fasciitis ORPHA:99921
Polycythemia Vera
Weight loss ORPHA:729
Seckel Syndrome
Abnormal dental enamel morphology, Cachexia ORPHA:808
Brucellosis
Anorexia, Failure to thrive, Small for gestational age, Weight loss ORPHA:1304
Postinfectious Vasculitis
Anorexia, Weight loss ORPHA:48435
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Systemic Lupus Erythematosus
Anorexia, Weight loss ORPHA:536
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Nijmegen Breakage Syndrome
Attention deficit hyperactivity disorder, Cachexia ORPHA:647
Castleman Disease
Weight loss ORPHA:160
Reactive Arthritis
Enthesitis, Weight loss ORPHA:29207
Sarcoidosis, Susceptibility To, 1
Anorexia, Weight loss OMIM:181000
Dermatomyositis
Cellulitis, Weight loss, Dysphagia, Chondrocalcinosis ORPHA:221
Behçet Disease
Anorexia, Weight loss ORPHA:117
African Trypanosomiasis
Abnormality of renin-angiotensin system, Abnormality of the endocrine system, Abnormal prolactin ... ORPHA:3385
Primary Sclerosing Cholangitis
Thyroiditis, Type I diabetes mellitus, Weight loss ORPHA:171
Riddle Syndrome
Weight loss ORPHA:420741
Kikuchi-Fujimoto Disease
Anorexia, Weight loss ORPHA:50918
Aicardi-Goutieres Syndrome 7
Hypothyroidism, Weight loss OMIM:615846
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Fanconi Anemia
Umbilical hernia, Weight loss, Hypogonadism, Abnormality of the hypothalamus-pituitary axis ORPHA:84
Norrie Disease
Delayed puberty, Cachexia, Failure to thrive, Motor stereotypy, Attention deficit hyperactivity d... ORPHA:649
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Granulomatosis With Polyangiitis
Abnormality of the hypothalamus-pituitary axis, Weight loss, Diabetes insipidus ORPHA:900
Multiple Myeloma
Weight loss ORPHA:29073
Rat-Bite Fever
Weight loss ORPHA:31205
Cockayne Syndrome
Delayed puberty, Cachexia, Congenital contracture, Absence of pubertal development, Diabetes mell... ORPHA:191
Marfan Syndrome
Attention deficit hyperactivity disorder, Cachexia, Slender build, Inguinal hernia ORPHA:558
Juvenile Polyposis Of Infancy
Subcutaneous lipoma, Cachexia ORPHA:79076
Immunodeficiency 82 With Systemic Inflammation
Anorexia, Weight loss OMIM:619381
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Delayed puberty, Abnormal temper tantrums, Cachexia ORPHA:2072
Tubulointerstitial Nephritis And Uveitis Syndrome
Anorexia, Chorioretinal scar, Weight loss ORPHA:91500
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Igg4-Related Dacryoadenitis And Sialadenitis
Thyroiditis, Nodular goiter, Weight loss ORPHA:79078
Igg4-Related Kidney Disease
Thyroiditis, Abnormality of the anterior pituitary, Weight loss ORPHA:449395
Pulmonary Alveolar Microlithiasis
Weight loss ORPHA:60025
Sarcoidosis
Scarring, Abnormality of the adrenal glands, Diabetes insipidus, Hypothyroidism, Hyperthyroidism,... ORPHA:797
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Proteus Syndrome
Abnormal subcutaneous fat tissue distribution, Lipoma, Diabetes insipidus, Abnormal dental enamel... ORPHA:744
Stickler Syndrome
Abnormal dental enamel morphology, Cachexia, Slender build ORPHA:828
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

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
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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