Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
alcohol dehydrogenase 1 (class I)
Synonyms:
Adh1-t,  ADH-AA,  Adh1tl,  class I alcohol dehydrogenase,  Adh-1,  Adh-1e,  Adh-1-t,  Adh1-e,  Adh-1t

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 Adh1 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.

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

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 Adh1

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 Adh1.

No publications found that use IMPC mice or data for Adh1.

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
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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter