Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
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.
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 predicted to be associated to Tm4sf5 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Hydroxyacyl Glutathione Hydrolase Deficiency | Glyoxalase deficiency | OMIM:614033 | |
Lactate Dehydrogenase B Deficiency | Reduced lactate dehydrogenase B level | OMIM:614128 | |
Deoxyribose-5-Phosphate Aldolase Deficiency | Abnormal circulating enzyme concentration or activity | OMIM:125460 | |
Alcohol Sensitivity, Acute | Reduced acetaldehyde dehydrogenase level | OMIM:610251 | |
Acatalasemia | Reduced catalase level | OMIM:614097 | |
Platelet-Activating Factor Acetylhydrolase Deficiency | Platelet-activating factor acetylhydrolase deficiency | OMIM:614278 | |
Renal Glucosuria | Polydipsia, Polyphagia | OMIM:233100 | |
Type 1 Diabetes Mellitus | Polydipsia, Polyphagia | OMIM:222100 | |
Kleine-Levin Syndrome | Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... | ORPHA:33543 | |
Acquired Central Diabetes Insipidus | Polydipsia | ORPHA:95626 | |
Hereditary Central Diabetes Insipidus | Polydipsia | ORPHA:30925 | |
Senior-Loken Syndrome 4 | Polydipsia | OMIM:606996 | |
Central Diabetes Insipidus | Polydipsia, Anorexia | ORPHA:178029 | |
Nephronophthisis-Like Nephropathy 2 | Polydipsia | OMIM:619468 | |
Teratoma, Pineal | Polydipsia | OMIM:273120 | |
Familial Cold Urticaria | Polydipsia | ORPHA:47045 | |
Bardet-Biedl Syndrome 9 | Polydipsia, Polyphagia | OMIM:615986 | |
Huntington Disease | Aggressive behavior, Oral-pharyngeal dysphagia, Addictive alcohol use, Agitation, Compulsive beha... | ORPHA:399 | |
Ochoa Syndrome | Polydipsia | ORPHA:2704 | |
Familial Hyperaldosteronism Type I | Polydipsia | ORPHA:403 | |
Hyperaldosteronism, Familial, Type Iii | Polydipsia | OMIM:613677 | |
Nephronophthisis 4 | Polydipsia | OMIM:606966 | |
Cystinosis | Polydipsia, Abnormal repetitive mannerisms | ORPHA:213 | |
East Syndrome | Polydipsia, Salt craving | ORPHA:199343 | |
Senior-Loken Syndrome 3 | Polydipsia | OMIM:606995 | |
Pediatric-Onset Graves Disease | Hyperactivity, Polydipsia, Polyphagia | ORPHA:525731 | |
Familial Hyperaldosteronism Type Iii | Polydipsia | ORPHA:251274 | |
Diabetes Insipidus, Nephrogenic, 2, Autosomal | Polydipsia | OMIM:125800 | |
Diabetes Insipidus, Nephrogenic, 1, X-Linked | Polydipsia | OMIM:304800 | |
Bardet-Biedl Syndrome 17 | Polydipsia | OMIM:615994 | |
Nephronophthisis 3 | Polydipsia | OMIM:604387 | |
Nephrogenic Diabetes Insipidus | Polydipsia, Anorexia | ORPHA:223 | |
Nephronophthisis 1 | Polydipsia | OMIM:256100 | |
Primary Unilateral Adrenal Hyperplasia | Polydipsia | ORPHA:231580 | |
Secondary Non-Traumatic Avascular Necrosis | Addictive alcohol use | ORPHA:399180 | |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome | Polydipsia | ORPHA:369929 | |
Whipple Disease | Polydipsia, Anorexia | ORPHA:3452 | |
Brain-Lung-Thyroid Syndrome | Hyperactivity, Abnormal drinking behavior, Compulsive behaviors, Abnormal eating behavior | ORPHA:209905 | |
Apparent Mineralocorticoid Excess | Polydipsia | ORPHA:320 | |
Marchiafava-Bignami Disease | Addictive alcohol use, Aggressive behavior | ORPHA:221074 | |
Nephronophthisis 11 | Polydipsia | OMIM:613550 | |
Septo-Optic Dysplasia Spectrum | Polydipsia | ORPHA:3157 | |
Methanol Poisoning | Addictive alcohol use | ORPHA:31825 | |
Senior-Loken Syndrome 1 | Polydipsia | OMIM:266900 | |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance | Polydipsia, Salt craving | OMIM:612780 | |
Renal Hypoplasia | Polydipsia | ORPHA:93101 | |
Senior-Boichis Syndrome | Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior | ORPHA:84081 | |
Helix Syndrome | Polydipsia | OMIM:617671 | |
Hyperparathyroidism, Neonatal Severe | Polydipsia | OMIM:239200 | |
Pituitary Dermoid And Epidermoid Cysts | Polydipsia | ORPHA:91351 | |
Panhypophysitis | Polydipsia | ORPHA:95513 | |
Isolated Osteopoikilosis | Addictive alcohol use | ORPHA:166119 | |
Acute Lung Injury | Addictive alcohol use | ORPHA:178320 | |
Gitelman Syndrome | Polydipsia, Salt craving | OMIM:263800 | |
Oligomeganephronia | Polydipsia | ORPHA:2260 | |
Toxic Epidermal Necrolysis | Polydipsia, Dysphagia | ORPHA:537 | |
Herpes Simplex Virus Encephalitis | Addictive alcohol use | ORPHA:1930 | |
Rabson-Mendenhall Syndrome | Polydipsia | ORPHA:769 | |
Acute Promyelocytic Leukemia | Addictive alcohol use, Anorexia | ORPHA:520 | |
Hypomagnesemia 3, Renal | Polydipsia | OMIM:248250 | |
Staphylococcal Necrotizing Pneumonia | Addictive alcohol use | ORPHA:36238 | |
Acquired Aneurysmal Subarachnoid Hemorrhage | Addictive alcohol use | ORPHA:90065 | |
Erdheim-Chester Disease | Polydipsia | ORPHA:35687 | |
Infantile Nephropathic Cystinosis | Polydipsia | ORPHA:411629 | |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome | Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Polydipsia, Polyphagia | ORPHA:293987 | |
Hyperparathyroidism-Jaw Tumor Syndrome | Polydipsia, Dysphagia | ORPHA:99880 | |
Wolfram Syndrome | Polydipsia | ORPHA:3463 | |
Parathyroid Carcinoma | Polydipsia, Dysphagia | ORPHA:143 | |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease | Polydipsia | ORPHA:93111 | |
Distal Renal Tubular Acidosis | Polydipsia | ORPHA:18 | |
Arima Syndrome | Polydipsia | OMIM:243910 | |
Cystinosis, Nephropathic | Polydipsia, Dysphagia, Oral-pharyngeal dysphagia | OMIM:219800 | |
Juvenile Nephropathic Cystinosis | Polydipsia | ORPHA:411634 | |
Gitelman Syndrome | Polydipsia, Salt craving | ORPHA:358 | |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness | Polydipsia | OMIM:602522 | |
Cirrhotic Cardiomyopathy | Addictive alcohol use | ORPHA:57777 | |
Porphyria Cutanea Tarda | Addictive alcohol use | ORPHA:101330 | |
Proximal Renal Tubular Acidosis | Polydipsia | ORPHA:47159 | |
Autosomal Recessive Polycystic Kidney Disease | Polydipsia | ORPHA:731 | |
Ethylene Glycol Poisoning | Addictive alcohol use | ORPHA:31826 | |
Bartter Syndrome, Type 2, Antenatal | Polydipsia | OMIM:241200 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Tm4sf5tm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | ES Cells |
Tm4sf5em1(IMPC)Kmpc | Deletion | Mice |
Tm4sf5tm1(KOMP)Wtsi | Reporter-tagged deletion allele (with selection cassette) | Targeting vectors, ES Cells |
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