Not currently registered for phenotyping at IMPC
Phenotyping is currently not planned for a knockout strain of this gene.
Gene Summary
IMPC Data Collections
- No Body Weight Data
- No Embryo Imaging Data
- No Viability Data
Phenotyping is currently not planned for a knockout strain of this gene.
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.
The table below shows human diseases associated to Adh1 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Alcohol Dependence | OMIM:103780 | ||
Parkinson Disease, Late-Onset | OMIM:168600 |
The table below shows human diseases predicted to be associated to Adh1 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Carpal Tunnel Syndrome 1 | Reduced circulating vitamin B6 level | OMIM:115430 | |
Fructosuria, Essential | Impairment of fructose metabolism | OMIM:229800 | |
Osteoporosis, Juvenile | Low serum calcitriol | OMIM:259750 | |
Tuberculosis | Weight loss | ORPHA:3389 | |
Pulmonary Blastoma | Weight loss | ORPHA:64741 | |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency | Abnormal circulating vitamin E concentration, Abnormal circulating vitamin A concentration, Obesity | ORPHA:209902 | |
Galactose Epimerase Deficiency | Impairment of galactose metabolism, Weight loss | ORPHA:79238 | |
Pancreatic Triacylglycerol Lipase Deficiency | Decreased circulating vitamin E concentration, Weight loss, Reduced circulating vitamin A concent... | ORPHA:309031 | |
Mantle Cell Lymphoma | Weight loss | ORPHA:52416 | |
Hypercholanemia, Familial, 2 | Low levels of vitamin D | OMIM:619256 | |
Diamond-Blackfan Anemia 9 | Low levels of vitamin D | OMIM:613308 | |
Progressive Nodular Histiocytosis | Cachexia | ORPHA:158022 | |
Pernicious Anemia | Malabsorption of Vitamin B12 | OMIM:170900 | |
Idiopathic Achalasia | Weight loss | ORPHA:930 | |
Maternal Uniparental Disomy Of Chromosome 4 | Reduced circulating vitamin A concentration, Decreased circulating vitamin E concentration, Low l... | ORPHA:96180 | |
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity | Reduced circulating vitamin A concentration, Decreased circulating vitamin E concentration | ORPHA:352641 | |
Hypercholanemia, Familial 1 | Failure to thrive, Low levels of vitamin K | OMIM:607748 | |
Imerslund-Grasbeck Syndrome 1 | Malabsorption of Vitamin B12, Vitamin B12 deficiency, Abnormal blood folate concentration | OMIM:261100 | |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy | Cachexia | ORPHA:1216 | |
Undifferentiated Pleomorphic Sarcoma | Weight loss | ORPHA:2023 | |
Isolated Congenital Hypoglossia/Aglossia | Weight loss | ORPHA:141152 | |
Formiminoglutamic Aciduria | Increased blood folate concentration, Abnormality of folate metabolism | ORPHA:51208 | |
Chronic Hiccup | Weight loss | ORPHA:396 | |
Isaacs Syndrome | Weight loss | ORPHA:84142 | |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome | Cachexia | ORPHA:1144 | |
Intestinal Dysmotility Syndrome | Failure to thrive, Weight loss | OMIM:620045 | |
Mulibrey Nanism | Cachexia | ORPHA:2576 | |
Huntington Disease-Like 2 | Weight loss | ORPHA:98934 | |
Multicentric Reticulohistiocytosis | Cachexia | ORPHA:139436 | |
Imerslund-Grasbeck Syndrome 2 | Vitamin B12 deficiency | OMIM:618882 | |
Diarrhea 6 | Vitamin B12 deficiency | OMIM:614616 | |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) | Failure to thrive, Cachexia, Weight loss | OMIM:612075 | |
Laryngeal Neuroendocrine Tumor | Weight loss | ORPHA:100083 | |
Vitamin D-Dependent Rickets, Type 3 | Low serum calcitriol, Decreased circulating calcifediol concentration | OMIM:619073 | |
Primary Sclerosing Cholangitis | Decreased circulating vitamin E concentration, Weight loss, Reduced circulating vitamin A concent... | ORPHA:171 | |
Abetalipoproteinemia | Reduced circulating vitamin A concentration, Low levels of vitamin D, Decreased circulating vitam... | ORPHA:14 | |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) | Slender build, Cachexia, Weight loss | OMIM:613662 | |
Shwachman-Diamond Syndrome | Decreased circulating vitamin E concentration, Reduced circulating vitamin A concentration, Low l... | ORPHA:811 | |
Diencephalic Syndrome | Cachexia, Decreased body weight | ORPHA:1672 | |
Insulin Autoimmune Syndrome | Weight loss | ORPHA:411593 | |
Inflammatory Bowel Disease 11 | Weight loss | OMIM:191390 | |
Acute Myelomonocytic Leukemia | Weight loss | ORPHA:517 | |
Obesity Due To Sim1 Deficiency | Low levels of vitamin B1, Obesity | ORPHA:369873 | |
Moynahan Syndrome | Cachexia | ORPHA:2574 | |
Nodular Lymphocyte Predominant Hodgkin Lymphoma | Weight loss | ORPHA:86893 | |
Focal Myositis | Weight loss | ORPHA:48918 | |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome | Weight loss | ORPHA:2198 | |
Hereditary Central Diabetes Insipidus | Weight loss | ORPHA:30925 | |
Huntington Disease-Like 2 | Weight loss | OMIM:606438 | |
Secondary Short Bowel Syndrome | Failure to thrive, Abnormality of vitamin metabolism, Weight loss | ORPHA:95427 | |
Riboflavin Deficiency | Low levels of vitamin B2 | OMIM:615026 | |
Intrinsic Factor Deficiency | Malabsorption of Vitamin B12, Vitamin B12 deficiency | OMIM:261000 | |
Acquired Central Diabetes Insipidus | Weight loss | ORPHA:95626 | |
Bile Acid Malabsorption, Primary, 2 | Low levels of vitamin D, Decreased circulating vitamin E concentration | OMIM:619481 | |
Central Diabetes Insipidus | Failure to thrive, Weight loss | ORPHA:178029 | |
Reticular Dysgenesis | Failure to thrive, Weight loss | ORPHA:33355 | |
Mast Cell Sarcoma | Weight loss | ORPHA:66661 | |
Mu-Heavy Chain Disease | Weight loss | ORPHA:100024 | |
Autosomal Recessive Polycystic Kidney Disease | Reduced circulating vitamin A concentration, Low levels of vitamin D, Decreased circulating vitam... | ORPHA:731 | |
Bile Acid Synthesis Defect, Congenital, 4 | Failure to thrive, Decreased circulating calcifediol concentration, Decreased circulating vitamin... | OMIM:214950 | |
Attrv30M Amyloidosis | Weight loss | ORPHA:85447 | |
Imerslund-Gräsbeck Syndrome | Vitamin B12 deficiency, Abnormal blood 5-methyltetrahydrofolate level, Weight loss, Malabsorption... | ORPHA:35858 | |
Primary Intestinal Lymphangiectasia | Low levels of vitamin D, Abnormality of vitamin metabolism, Weight loss | ORPHA:90362 | |
Chylomicron Retention Disease | Failure to thrive, Abnormality of vitamin metabolism | ORPHA:71 | |
Hypercalcemia, Infantile, 1 | Failure to thrive, Weight loss | OMIM:143880 | |
Perry Syndrome | Weight loss | ORPHA:178509 | |
Follicular Lymphoma | Weight loss | ORPHA:545 | |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 | Low levels of vitamin K | ORPHA:565899 | |
Generalized Eruptive Histiocytosis | Abnormal vitamin B12 level | ORPHA:157991 | |
Hirschsprung Disease | Failure to thrive in infancy, Weight loss | ORPHA:388 | |
Inflammatory Bowel Disease (Crohn Disease) 1 | Weight loss | OMIM:266600 | |
Erythrokeratodermia Variabilis | Weight loss | ORPHA:317 | |
Alexander Disease Type I | Failure to thrive, Cachexia | ORPHA:363717 | |
Juvenile Huntington Disease | Weight loss | ORPHA:248111 | |
Allergic Bronchopulmonary Aspergillosis | Weight loss | ORPHA:1164 | |
Pleural Mesothelioma | Weight loss | ORPHA:50251 | |
Oculopharyngodistal Myopathy | Weight loss | ORPHA:98897 | |
Pseudomyxoma Peritonei | Weight loss | ORPHA:26790 | |
Pfapa Syndrome | Weight loss | ORPHA:42642 | |
Liposarcoma | Weight loss | ORPHA:69078 | |
Congenital Muscular Dystrophy Due To Lmna Mutation | Cachexia | ORPHA:157973 | |
Parkinson Disease 4, Autosomal Dominant | Weight loss | OMIM:605543 | |
Autosomal Dominant Epidermolytic Ichthyosis | Weight loss | ORPHA:312 | |
Congenital Bile Acid Synthesis Defect Type 3 | Abnormality of vitamin metabolism | ORPHA:79302 | |
Spinocerebellar Ataxia 48 | Cachexia | OMIM:618093 | |
Celiac Disease, Susceptibility To, 1 | Vitamin B12 deficiency, Weight loss, Reduced blood folate concentration, Low levels of vitamin D,... | OMIM:212750 | |
Cap Polyposis | Weight loss | ORPHA:160148 | |
Maxillonasal Dysplasia | Low levels of vitamin K | ORPHA:1248 | |
Bullous Pemphigoid | Weight loss | ORPHA:703 | |
Bile Acid Synthesis Defect, Congenital, 6 | Low levels of vitamin D | OMIM:617308 | |
Peritoneal Cystic Mesothelioma | Weight loss | ORPHA:168816 | |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome | Cachexia | ORPHA:1389 | |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 | Weight loss | OMIM:188580 | |
Malignant Peritoneal Mesothelioma | Weight loss | ORPHA:168811 | |
Congenital Enterocyte Heparan Sulfate Deficiency | Weight loss | ORPHA:103910 | |
Osteosarcoma | Weight loss | ORPHA:668 | |
Mcdonough Syndrome | Cachexia | ORPHA:2471 | |
Pemphigus Vulgaris | Weight loss | ORPHA:704 | |
Graves Disease, Susceptibility To, 1 | Weight loss | OMIM:275000 | |
Thymic Carcinoma | Weight loss | ORPHA:99868 | |
Bone Dysplasia, Lethal Holmgren Type | Failure to thrive, Weight loss | ORPHA:1842 | |
Rhabdoid Tumor | Weight loss | ORPHA:69077 | |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 | Weight loss | OMIM:613239 | |
Huntington Disease | Decreased body mass index, Weight loss | ORPHA:399 | |
Osteoporosis-Pseudoglioma Syndrome | Low serum calcitriol | ORPHA:2788 | |
Desmoplastic Small Round Cell Tumor | Cachexia, Weight loss | ORPHA:83469 | |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary | High serum calcitriol, Failure to thrive, High serum calcifediol | OMIM:241530 | |
Acquired Hypertrichosis Lanuginosa | Weight loss | ORPHA:2221 | |
Mitochondrial Neurogastrointestinal Encephalomyopathy | Cachexia, Weight loss | ORPHA:298 | |
Lipodystrophy Due To Peptidic Growth Factors Deficiency | Cachexia, Weight loss | ORPHA:1979 | |
Christianson Syndrome | Cachexia | ORPHA:85278 | |
Huntington Disease-Like 1 | Weight loss | ORPHA:157941 | |
Immunodeficiency 27A | Weight loss | OMIM:209950 | |
Benign Recurrent Intrahepatic Cholestasis | Weight loss | ORPHA:65682 | |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 | Failure to thrive in infancy, Cachexia | OMIM:616801 | |
Refractory Celiac Disease | Low serum calcitriol, Weight loss | ORPHA:398063 | |
Eosinophilic Fasciitis | Weight loss | ORPHA:3165 | |
Riboflavin Transporter Deficiency | Cachexia | ORPHA:97229 | |
Lead Poisoning | Low levels of vitamin D, Small for gestational age, Abnormality of vitamin D metabolism | ORPHA:330015 | |
Classic Hodgkin Lymphoma | Weight loss | ORPHA:391 | |
Isolated Succinate-Coq Reductase Deficiency | Weight loss | ORPHA:3208 | |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B | Failure to thrive, Decreased circulating calcifediol concentration | OMIM:600081 | |
Deafness-Hypogonadism Syndrome | Low levels of vitamin B1 | ORPHA:90646 | |
Nephroblastoma | Weight loss | ORPHA:654 | |
Chronic Beryllium Disease | Weight loss | ORPHA:133 | |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A | Low serum calcitriol, Failure to thrive, Decreased circulating calcifediol concentration | OMIM:264700 | |
Takayasu Arteritis | Weight loss | ORPHA:3287 | |
Idiopathic Bronchiectasis | Cachexia | ORPHA:60033 | |
Non-Functioning Paraganglioma | Weight loss | ORPHA:94080 | |
Glucose-Galactose Malabsorption | Failure to thrive, Weight loss | ORPHA:35710 | |
Renpenning Syndrome | Cachexia | ORPHA:3242 | |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy | Abnormal vitamin B12 level, Failure to thrive | ORPHA:544503 | |
Classic Galactosemia | Low levels of vitamin D | ORPHA:79239 | |
Kaposi Sarcoma | Weight loss | ORPHA:33276 | |
Wilson Disease | Failure to thrive, Increased body weight, Weight loss | ORPHA:905 | |
X-Linked Agammaglobulinemia | Failure to thrive, Weight loss | ORPHA:47 | |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency | Abnormal blood folate concentration, Decreased CSF 5-methyltetrahydrofolate concentration | OMIM:613839 | |
Polyarteritis Nodosa | Weight loss | ORPHA:767 | |
Pulmonary Non-Tuberculous Mycobacterial Infection | Weight loss | ORPHA:411703 | |
Leishmaniasis | Weight loss | ORPHA:507 | |
Majeed Syndrome | Failure to thrive, Cachexia, Weight loss | ORPHA:77297 | |
Congenital Bile Acid Synthesis Defect Type 2 | Failure to thrive, Decreased circulating vitamin E concentration | ORPHA:79303 | |
Marchiafava-Bignami Disease | Low levels of vitamin B1 | ORPHA:221074 | |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor | High serum calcitriol | OMIM:600785 | |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria | Cachexia | ORPHA:1933 | |
Generalized Pseudohypoaldosteronism Type 1 | Failure to thrive in infancy, Weight loss | ORPHA:171876 | |
Flynn-Aird Syndrome | Cachexia | ORPHA:2047 | |
Classic Pantothenate Kinase-Associated Neurodegeneration | Weight loss | ORPHA:216866 | |
Laryngotracheoesophageal Cleft Type 4 | Cachexia | ORPHA:93941 | |
Subcutaneous Panniculitis-Like T-Cell Lymphoma | Weight loss | ORPHA:86884 | |
Ring Chromosome 10 Syndrome | Cachexia | ORPHA:1438 | |
Holocarboxylase Synthetase Deficiency | Weight loss | ORPHA:79242 | |
Methylmalonic Aciduria, Cbla Type | Methylmalonic acidemia, Abnormal vitamin B12 level, Failure to thrive, Decreased adenosylcobalamin | OMIM:251100 | |
Anaplastic Thyroid Carcinoma | Weight loss | ORPHA:142 | |
Deafness-Lymphedema-Leukemia Syndrome | Weight loss | ORPHA:3226 | |
Yao Syndrome | Weight loss | OMIM:617321 | |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome | Weight loss | ORPHA:79127 | |
Vitamin D-Dependent Rickets, Type 2A | High serum calcitriol, Failure to thrive | OMIM:277440 | |
Medullary Thyroid Carcinoma | Weight loss | ORPHA:1332 | |
Tetrasomy 12P | Cachexia | ORPHA:884 | |
Autosomal Dominant Hypophosphatemic Rickets | Low levels of vitamin D | ORPHA:89937 | |
Rheumatoid Arthritis | Weight loss | OMIM:180300 | |
Congenital Disorder Of Glycosylation, Type Iit | Low levels of vitamin D, Abnormal protein O-linked glycosylation | OMIM:618885 | |
Hypobetalipoproteinemia, Familial, 1 | Decreased circulating vitamin E concentration | OMIM:615558 | |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy | Cachexia | ORPHA:2774 | |
Cryptogenic Organizing Pneumonia | Weight loss | ORPHA:1302 | |
Fatal Familial Insomnia | Weight loss | OMIM:600072 | |
Perry Syndrome | Weight loss | OMIM:168605 | |
Oromandibular Dystonia | Weight loss | ORPHA:93958 | |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome | Severe failure to thrive, Cachexia | ORPHA:371364 | |
Klatskin Tumor | Weight loss | ORPHA:99978 | |
Hyperprolinemia Type 2 | Reduced circulating vitamin B6 level | ORPHA:79101 | |
Medium Chain Acyl-Coa Dehydrogenase Deficiency | Cachexia | ORPHA:42 | |
Cronkhite-Canada Syndrome | Cachexia | ORPHA:2930 | |
Eosinophilic Gastroenteritis | Weight loss | ORPHA:2070 | |
Wolman Disease | Cachexia | ORPHA:75233 | |
Pelizaeus-Merzbacher Disease | Failure to thrive in infancy, Cachexia | ORPHA:702 | |
Inflammatory Pseudotumor Of The Liver | Weight loss | ORPHA:90003 | |
Idiopathic Chronic Eosinophilic Pneumonia | Weight loss | ORPHA:2902 | |
Neuroblastoma, Susceptibility To, 1 | Failure to thrive, Weight loss | OMIM:256700 | |
Congenital Tufting Enteropathy | Failure to thrive, Weight loss | ORPHA:92050 | |
Neuropathy, Congenital Hypomyelinating, 3 | Cachexia | OMIM:618186 | |
Wild Type Attr Amyloidosis | Weight loss | ORPHA:330001 | |
Igg4-Related Aortitis | Weight loss | ORPHA:449400 | |
Ménétrier Disease | Weight loss | ORPHA:2494 | |
Loeffler Endocarditis | Weight loss | ORPHA:75566 | |
Congenital Bile Acid Synthesis Defect Type 4 | Low levels of vitamin K | ORPHA:79095 | |
Diffuse Alveolar Hemorrhage | Weight loss | ORPHA:90060 | |
Gm1 Gangliosidosis | Failure to thrive, Weight loss | ORPHA:354 | |
Acute Monoblastic/Monocytic Leukemia | Weight loss | ORPHA:514 | |
Carney-Stratakis Syndrome | Weight loss | ORPHA:97286 | |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor | Small for gestational age, Weight loss | ORPHA:424 | |
Nodular Non-Suppurative Panniculitis | Weight loss | ORPHA:33577 | |
Fanconi Renotubular Syndrome 2 | High serum calcitriol | OMIM:613388 | |
Oculogastrointestinal Muscular Dystrophy | Cachexia | ORPHA:1876 | |
Eiken Syndrome | Low levels of vitamin D, Decreased body weight | OMIM:600002 | |
Aggressive Systemic Mastocytosis | Weight loss | ORPHA:98850 | |
Aredyld Syndrome | Cachexia | ORPHA:1133 | |
Bone Marrow Failure Syndrome 3 | Failure to thrive, Low levels of vitamin D, Decreased circulating vitamin E concentration | OMIM:617052 | |
Corticosteroid-Sensitive Aseptic Abscess Syndrome | Weight loss | ORPHA:54251 | |
Hereditary Hypophosphatemic Rickets With Hypercalciuria | High serum calcitriol | ORPHA:157215 | |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis | Weight loss | ORPHA:324964 | |
Pneumocystosis | Weight loss | ORPHA:723 | |
Hypocalcemic Vitamin D-Dependent Rickets | Low serum calcitriol, Failure to thrive | ORPHA:289157 | |
Transcobalamin Ii Deficiency | Failure to thrive, Abnormal blood folate concentration | OMIM:275350 | |
Systemic Capillary Leak Syndrome | Weight loss | ORPHA:188 | |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome | Abnormality of vitamin D metabolism | ORPHA:541423 | |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 | High serum calcitriol | OMIM:617994 | |
Felty Syndrome | Weight loss | ORPHA:47612 | |
Thymic Neuroendocrine Tumor | Weight loss | ORPHA:97289 | |
19Q13.11 Microdeletion Syndrome | Failure to thrive, Cachexia | ORPHA:217346 | |
Infantile Nephropathic Cystinosis | Failure to thrive, Abnormality of vitamin D metabolism | ORPHA:411629 | |
Short Syndrome | Weight loss | ORPHA:3163 | |
Polymyositis | Weight loss | ORPHA:732 | |
8P23.1 Microdeletion Syndrome | Obesity, Weight loss | ORPHA:251071 | |
Xeroderma Pigmentosum-Cockayne Syndrome Complex | Abnormality of amino acid metabolism, Cachexia | ORPHA:220295 | |
Multiple Myeloma | Weight loss, Abnormality of vitamin B12 metabolism | ORPHA:29073 | |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 | High serum calcitriol | OMIM:211900 | |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form | Low levels of vitamin D, Failure to thrive, Decreased body weight | ORPHA:89842 | |
Aicardi-Goutieres Syndrome 9 | Failure to thrive, Weight loss | OMIM:619487 | |
Adrenocortical Carcinoma | Increased body weight, Weight loss | ORPHA:1501 | |
Pyruvate Dehydrogenase E2 Deficiency | Low levels of vitamin B1 | ORPHA:79244 | |
Budd-Chiari Syndrome | Weight loss | ORPHA:131 | |
X-Linked Creatine Transporter Deficiency | Cachexia | ORPHA:52503 | |
Lymphoid Interstitial Pneumonia | Failure to thrive, Weight loss | ORPHA:79128 | |
Silver-Russell Syndrome | Failure to thrive in infancy, Obesity, Cachexia | ORPHA:813 | |
Dietary Iron Overload Disease | Low levels of vitamin C | ORPHA:139507 | |
Symptomatic Form Of Hfe-Related Hemochromatosis | Weight loss | ORPHA:465508 | |
Acrodermatitis Enteropathica | Failure to thrive, Weight loss | ORPHA:37 | |
Neuroendocrine Tumor Of The Colon | Weight loss | ORPHA:100080 | |
Solitary Fibrous Tumor | Weight loss | ORPHA:2126 | |
Fryns-Smeets-Thiry Syndrome | Cachexia | ORPHA:2058 | |
Osteootohepatoenteric Syndrome | Failure to thrive, Weight loss | OMIM:619377 | |
Acute Promyelocytic Leukemia | Weight loss | ORPHA:520 | |
Familial Glucocorticoid Deficiency | Failure to thrive, Weight loss | ORPHA:361 | |
Primary Myelofibrosis | Cachexia | ORPHA:824 | |
Gerstmann-Straussler Disease | Weight loss | OMIM:137440 | |
Sporadic Pheochromocytoma/Secreting Paraganglioma | Weight loss | ORPHA:276621 | |
Hypophosphatemic Rickets, X-Linked Recessive | High serum calcitriol | OMIM:300554 | |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) | Slender build, Cachexia, Weight loss | OMIM:603041 | |
Drug Reaction With Eosinophilia And Systemic Symptoms | Weight loss | ORPHA:139402 | |
Glossopharyngeal Neuralgia | Weight loss | ORPHA:221098 | |
Diamond-Blackfan Anemia 7 | Low levels of vitamin D | OMIM:612562 | |
Infantile Krabbe Disease | Failure to thrive, Cachexia | ORPHA:206436 | |
Eosinophilic Granulomatosis With Polyangiitis | Weight loss | ORPHA:183 | |
Rett Syndrome | Cachexia | OMIM:312750 | |
Pancreatoblastoma | Weight loss | ORPHA:677 | |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes | Cachexia | OMIM:175500 | |
Familial Gestational Hyperthyroidism | Weight loss | ORPHA:99819 | |
Bronchial Neuroendocrine Tumor | Weight loss | ORPHA:97287 | |
Neuroendocrine Tumor Of The Rectum | Weight loss | ORPHA:100081 | |
Neuroendocrine Tumor Of Anal Canal | Weight loss | ORPHA:100082 | |
Beta-Ketothiolase Deficiency | Weight loss | ORPHA:134 | |
Giant Cell Arteritis | Weight loss | ORPHA:397 | |
Peripheral Primitive Neuroectodermal Tumor | Weight loss | ORPHA:370348 | |
Juvenile Amyotrophic Lateral Sclerosis | Cachexia | ORPHA:300605 | |
Ataxia With Vitamin E Deficiency | Decreased circulating vitamin E concentration | OMIM:277460 | |
Epidermal Nevus Syndrome | Low levels of vitamin D | ORPHA:35125 | |
Dent Disease 1 | High serum calcitriol | OMIM:300009 | |
Late-Onset Isolated Acth Deficiency | Failure to thrive, Weight loss | ORPHA:199299 | |
Thymoma | Weight loss | ORPHA:99867 | |
Autoimmune Pulmonary Alveolar Proteinosis | Weight loss | ORPHA:747 | |
X-Linked Intellectual Disability, Cabezas Type | Obesity, Cachexia | ORPHA:85293 | |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome | Cachexia | ORPHA:3217 | |
Hereditary Amyloidosis With Primary Renal Involvement | Weight loss | ORPHA:85450 | |
Cystic Echinococcosis | Weight loss | ORPHA:400 | |
Primary Hepatic Neuroendocrine Carcinoma | Weight loss | ORPHA:100085 | |
Amoebiasis Due To Entamoeba Histolytica | Weight loss | ORPHA:67 | |
Pyomyositis | Weight loss | ORPHA:764 | |
Poems Syndrome | Weight loss | ORPHA:2905 | |
Chondrodysplasia Punctata, Autosomal Dominant | Low levels of vitamin K | OMIM:118650 | |
Polycythemia Vera | Weight loss | ORPHA:729 | |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis | Failure to thrive, Weight loss | ORPHA:1018 | |
Insulin-Resistance Syndrome Type B | Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss | ORPHA:2298 | |
3-Hydroxy-3-Methylglutaric Aciduria | Weight loss | ORPHA:20 | |
Tropical Pancreatitis | Weight loss | ORPHA:103918 | |
Al Amyloidosis | Weight loss | ORPHA:85443 | |
Malignant Atrophic Papulosis | Weight loss | ORPHA:679 | |
Xfe Progeroid Syndrome | Failure to thrive, Cachexia | OMIM:610965 | |
Lynch Syndrome | Weight loss | ORPHA:144 | |
Whipple Disease | Cachexia | ORPHA:3452 | |
Hereditary Pheochromocytoma-Paraganglioma | Weight loss | ORPHA:29072 | |
Autosomal Recessive Hypophosphatemic Rickets | Low serum calcitriol, Abnormality of vitamin D metabolism | ORPHA:289176 | |
Familial Colorectal Cancer Type X | Weight loss | ORPHA:440437 | |
Simple Cryoglobulinemia | Weight loss | ORPHA:91139 | |
Systemic Mastocytosis With Associated Hematologic Neoplasm | Weight loss | ORPHA:98849 | |
Gallbladder Neuroendocrine Tumor | Weight loss | ORPHA:100086 | |
Familial Thrombocytosis | Weight loss | ORPHA:71493 | |
Hereditary Late-Onset Parkinson Disease | Weight loss | ORPHA:411602 | |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis | Weight loss | OMIM:607459 | |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome | Decreased circulating vitamin E concentration, Abnormality of amino acid metabolism | ORPHA:309854 | |
Lysosomal Acid Lipase Deficiency | Failure to thrive, Cachexia, Weight loss | ORPHA:275761 | |
Anemia, Congenital Dyserythropoietic, Type Iv | Weight loss | OMIM:613673 | |
Renal Nutcracker Syndrome | Weight loss | ORPHA:71273 | |
Acute Adrenal Insufficiency | Failure to thrive, Weight loss | ORPHA:95409 | |
Rajab Interstitial Lung Disease With Brain Calcifications 1 | Low levels of vitamin D, Failure to thrive, Small for gestational age, Slender build | OMIM:613658 | |
Granulomatosis With Polyangiitis | Weight loss | OMIM:608710 | |
Juvenile Dermatomyositis | Weight loss | ORPHA:93672 | |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form | Low levels of vitamin D, Abnormality of vitamin metabolism | ORPHA:79408 | |
Neuroendocrine Tumor Of Stomach | Weight loss | ORPHA:100075 | |
Juvenile Nephropathic Cystinosis | Low levels of vitamin D, Failure to thrive | ORPHA:411634 | |
Caroli Disease | Weight loss | ORPHA:53035 | |
Q Fever | Weight loss | ORPHA:781 | |
Igg4-Related Retroperitoneal Fibrosis | Weight loss | ORPHA:49041 | |
Castleman Disease | Weight loss | ORPHA:160 | |
Thyrotoxic Periodic Paralysis | Obesity, Weight loss | ORPHA:79102 | |
Isolated Permanent Neonatal Diabetes Mellitus | Failure to thrive, Weight loss | ORPHA:99885 | |
Familial Pancreatic Carcinoma | Weight loss | ORPHA:1333 | |
Malt Lymphoma | Weight loss | ORPHA:52417 | |
Alveolar Echinococcosis | Weight loss | ORPHA:284 | |
Hermansky-Pudlak Syndrome | Weight loss | ORPHA:79430 | |
Stevens-Johnson Syndrome | Weight loss | ORPHA:36426 | |
Mucopolysaccharidosis Type 3 | Low levels of vitamin D | ORPHA:581 | |
Toxic Epidermal Necrolysis | Weight loss | ORPHA:537 | |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome | Failure to thrive in infancy, Cachexia | ORPHA:37042 | |
Riddle Syndrome | Weight loss | ORPHA:420741 | |
Erdheim-Chester Disease | Weight loss | ORPHA:35687 | |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib | Low levels of vitamin D, Failure to thrive | ORPHA:79259 | |
Seckel Syndrome | Cachexia | ORPHA:808 | |
Bannayan-Riley-Ruvalcaba Syndrome | Cachexia | ORPHA:109 | |
Dent Disease | High serum calcitriol | ORPHA:1652 | |
Mucolipidosis Type Ii | Weight loss | ORPHA:576 | |
Microsporidiosis | Cachexia, Weight loss | ORPHA:2552 | |
Trisomy 18 | Cachexia | ORPHA:3380 | |
Oculocerebrorenal Syndrome Of Lowe | Low levels of vitamin D, Failure to thrive | ORPHA:534 | |
Immunodeficiency 31C | Weight loss | OMIM:614162 | |
Schwartz-Jampel Syndrome | Cachexia, Decreased body weight | ORPHA:800 | |
Congenital Fiber-Type Disproportion Myopathy | Failure to thrive, Weight loss | ORPHA:2020 | |
Addison Disease | Failure to thrive, Weight loss | ORPHA:85138 | |
Rat-Bite Fever | Weight loss | ORPHA:31205 | |
Reactive Arthritis | Weight loss | ORPHA:29207 | |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome | Cachexia | ORPHA:1969 | |
Oculopharyngodistal Myopathy 1 | Weight loss | OMIM:164310 | |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis | Weight loss | ORPHA:85408 | |
Ileal Neuroendocrine Tumor | Weight loss | ORPHA:100078 | |
Aicardi-Goutieres Syndrome 7 | Weight loss | OMIM:615846 | |
Ppoma | Weight loss | ORPHA:97278 | |
Brucellosis | Failure to thrive, Small for gestational age, Weight loss | ORPHA:1304 | |
Fanconi Anemia | Weight loss | ORPHA:84 | |
Tsh-Secreting Pituitary Adenoma | Weight loss | ORPHA:91347 | |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 | Weight loss | OMIM:301074 | |
Somatostatinoma | Weight loss | ORPHA:97283 | |
Cystinosis, Nephropathic | Failure to thrive in infancy, Weight loss | OMIM:219800 | |
Parathyroid Carcinoma | Weight loss | ORPHA:143 | |
Granulomatosis With Polyangiitis | Weight loss | ORPHA:900 | |
Zollinger-Ellison Syndrome | Weight loss | ORPHA:913 | |
Grfoma | Weight loss | ORPHA:97261 | |
Vipoma | Weight loss | ORPHA:97282 | |
Glucagonoma | Weight loss | ORPHA:97280 | |
Pulmonary Alveolar Microlithiasis | Weight loss | ORPHA:60025 | |
Postinfectious Vasculitis | Weight loss | ORPHA:48435 | |
Behçet Disease | Weight loss | ORPHA:117 | |
Dermatomyositis | Weight loss | ORPHA:221 | |
Pearson Syndrome | Malabsorption of Vitamin B12, Small for gestational age | ORPHA:699 | |
Juvenile Polyposis Of Infancy | Cachexia | ORPHA:79076 | |
Liver Disease, Severe Congenital | Failure to thrive, Low levels of vitamin D, Decreased circulating vitamin E concentration | OMIM:619991 | |
Nijmegen Breakage Syndrome | Cachexia | ORPHA:647 | |
Primary Fanconi Renotubular Syndrome | Weight loss | ORPHA:3337 | |
Nocardiosis | Weight loss | ORPHA:31204 | |
Igg4-Related Dacryoadenitis And Sialadenitis | Weight loss | ORPHA:79078 | |
Multiple Endocrine Neoplasia Type 1 | Weight loss | ORPHA:652 | |
Cockayne Syndrome | Cachexia | ORPHA:191 | |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency | Failure to thrive, Weight loss | ORPHA:90794 | |
Hutchinson-Gilford Progeria Syndrome | Severe failure to thrive, Weight loss | ORPHA:740 | |
Sarcoidosis, Susceptibility To, 1 | Weight loss | OMIM:181000 | |
Autosomal Dominant Cutis Laxa | Low levels of vitamin D | ORPHA:90348 | |
Marfan Syndrome | Slender build, Cachexia | ORPHA:558 | |
Congenital Erythropoietic Porphyria | Low levels of vitamin D | ORPHA:79277 | |
Autoimmune Lymphoproliferative Syndrome | Abnormal vitamin B12 level | ORPHA:3261 | |
Camurati-Engelmann Disease | Slender build, Cachexia | ORPHA:1328 | |
Kikuchi-Fujimoto Disease | Weight loss | ORPHA:50918 | |
Igg4-Related Kidney Disease | Weight loss | ORPHA:449395 | |
Immunodeficiency 82 With Systemic Inflammation | Weight loss | OMIM:619381 | |
Choreoacanthocytosis | Weight loss | ORPHA:2388 | |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome | Cachexia | ORPHA:2072 | |
Stickler Syndrome | Slender build, Cachexia | ORPHA:828 | |
Cushing Syndrome Due To Ectopic Acth Secretion | Truncal obesity, Abdominal obesity, Increased body weight, Weight loss | ORPHA:99889 | |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome | Low levels of vitamin D | ORPHA:438213 | |
Sarcoidosis | Weight loss | ORPHA:797 | |
Chronic Graft Versus Host Disease | Weight loss | ORPHA:99921 | |
Tubulointerstitial Nephritis And Uveitis Syndrome | Weight loss | ORPHA:91500 | |
African Trypanosomiasis | Weight loss | ORPHA:3385 | |
Proteus Syndrome | Cachexia | ORPHA:744 | |
Goodpasture Syndrome | Weight loss | OMIM:233450 | |
Norrie Disease | Failure to thrive, Cachexia | ORPHA:649 | |
Tropical Endomyocardial Fibrosis | Cachexia | ORPHA:75565 | |
Alcohol Dependence | OMIM:103780 | ||
Parkinson Disease, Late-Onset | OMIM:168600 |
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 |
---|---|---|
Adh1tm1e(KOMP)Mbp | Targeted, non-conditional allele | ES Cells |
Adh1tm91960(L1L2_Pgk_P) | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors |
Adh1tm2e(KOMP)Mbp | Targeted, non-conditional allele | ES Cells |
Adh1tm2a(KOMP)Mbp | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Adh1tm1a(KOMP)Mbp | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Get highlights of the most important data releases, news and events, delivered straight to your email inbox
Subscribe to newsletter