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 circulating lactate dehydrogenase concentration | OMIM:614128 | |
Deoxyribose-5-Phosphate Aldolase Deficiency | Abnormal circulating enzyme concentration or activity | OMIM:125460 | |
Hairy Palms And Soles | Hypermelanotic macule | OMIM:139650 | |
Hyperpigmentation, Familial Progressive, 1 | Hyperpigmentation of the skin | OMIM:614233 | |
Nasal Hyperpigmentation, Familial Transverse | Hyperpigmentation of the skin | OMIM:161530 | |
Acroleukopathy, Symmetric | Symmetric great toe depigmentation | OMIM:102000 | |
Dowling-Degos Disease 1 | Progressive reticulate hyperpigmentation | OMIM:179850 | |
Lentiginosis, Inherited Patterned | Hypermelanotic macule | OMIM:151001 | |
Hyperpigmentation Of Fuldauer And Kuijpers | Hyperpigmentation of the skin | OMIM:145200 | |
Linear Atrophoderma Of Moulin | Linear hyperpigmentation | ORPHA:140933 | |
Familial Isolated Café-Au-Lait Macules | Freckling, Multiple cafe-au-lait spots | ORPHA:2678 | |
Alcohol Sensitivity, Acute | Reduced acetaldehyde dehydrogenase level | OMIM:610251 | |
Dowling-Degos Disease 3 | Reticulated skin pigmentation, Hyperpigmented/hypopigmented macules | OMIM:615674 | |
Acatalasemia | Reduced circulating catalase activity | OMIM:614097 | |
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect | Hyperpigmentation of the skin | OMIM:202355 | |
Dyschromatosis Symmetrica Hereditaria | Hyperpigmented/hypopigmented macules | OMIM:127400 | |
Mediosternal Depigmentation Line | Mediosternal, longitudinal streak of hypopigmentation | OMIM:155200 | |
Raindrop Hypopigmentation | Hypopigmentation of the skin | OMIM:179500 | |
Dyschromatosis Universalis Hereditaria 1 | Hyperpigmented/hypopigmented macules | OMIM:127500 | |
Diamond-Blackfan Anemia 17 | Hyperpigmentation of the skin | OMIM:617409 | |
Angioma, Tufted | Abnormality of skin pigmentation | OMIM:607859 | |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive | Hypopigmented skin patches, Multiple lentigines, Hypermelanotic macule, Cafe-au-lait spot, Progre... | OMIM:145250 | |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 | Vitiligo | OMIM:606579 | |
Platelet-Activating Factor Acetylhydrolase Deficiency | Platelet-activating factor acetylhydrolase deficiency | OMIM:614278 | |
Hyperbilirubinemia, Rotor Type | Abnormality of skin pigmentation | OMIM:237450 | |
Renal Glucosuria | Polydipsia, Polyphagia | OMIM:233100 | |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 | Vitiligo | OMIM:193200 | |
Type 1 Diabetes Mellitus | Polydipsia, Polyphagia | OMIM:222100 | |
Kleine-Levin Syndrome | Polydipsia, Agitation, Abnormal eating behavior, Polyphagia, Repetitive compulsive behavior, Swee... | ORPHA:33543 | |
Autoimmune Disease, Susceptibility To, 1 | Vitiligo | OMIM:607836 | |
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 9 | Polydipsia | OMIM:613824 | |
Nephronophthisis-Like Nephropathy 2 | Polydipsia | OMIM:619468 | |
Familial Cold Urticaria | Polydipsia | ORPHA:47045 | |
Teratoma, Pineal | Polydipsia | OMIM:273120 | |
Bardet-Biedl Syndrome 9 | Polydipsia, Polyphagia | OMIM:615986 | |
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, Motor stereotypy | ORPHA:213 | |
Familial Hyperaldosteronism Type Iii | Polydipsia | ORPHA:251274 | |
East Syndrome | Polydipsia, Salt craving | ORPHA:199343 | |
Senior-Loken Syndrome 3 | Polydipsia | OMIM:606995 | |
Diabetes Insipidus, Nephrogenic, 2, Autosomal | Polydipsia | OMIM:125800 | |
Diabetes Insipidus, Nephrogenic, 1, X-Linked | Polydipsia | OMIM:304800 | |
Pediatric-Onset Graves Disease | Polydipsia, Polyphagia, Hyperactivity | ORPHA:525731 | |
Bardet-Biedl Syndrome 17 | Polydipsia | OMIM:615994 | |
Nephrogenic Diabetes Insipidus | Polydipsia, Anorexia | ORPHA:223 | |
Nephronophthisis 1 | Polydipsia | OMIM:256100 | |
Primary Unilateral Adrenal Hyperplasia | Polydipsia | ORPHA:231580 | |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome | Polydipsia | ORPHA:369929 | |
Brain-Lung-Thyroid Syndrome | Hyperactivity, Abnormal eating behavior, Compulsive behaviors, Abnormal drinking behavior | ORPHA:209905 | |
Apparent Mineralocorticoid Excess | Polydipsia | ORPHA:320 | |
Whipple Disease | Polydipsia, Anorexia | ORPHA:3452 | |
Nephronophthisis 11 | Polydipsia | OMIM:613550 | |
Septo-Optic Dysplasia Spectrum | Polydipsia | ORPHA:3157 | |
Nephronophthisis 3 | Polydipsia | OMIM:604387 | |
Senior-Loken Syndrome 1 | Polydipsia | OMIM:266900 | |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 | Polydipsia | OMIM:617994 | |
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 | |
Pituitary Dermoid And Epidermoid Cysts | Polydipsia | ORPHA:91351 | |
Panhypophysitis | Polydipsia | ORPHA:95513 | |
Hyperparathyroidism, Neonatal Severe | Polydipsia | OMIM:239200 | |
Gitelman Syndrome | Polydipsia, Salt craving | OMIM:263800 | |
Oligomeganephronia | Polydipsia | ORPHA:2260 | |
Toxic Epidermal Necrolysis | Polydipsia, Dysphagia | ORPHA:537 | |
Rabson-Mendenhall Syndrome | Polydipsia | ORPHA:769 | |
Erdheim-Chester Disease | Polydipsia | ORPHA:35687 | |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome | Polydipsia, Polyphagia, Compulsive behaviors, Self-injurious behavior, Aggressive behavior | ORPHA:293987 | |
Infantile Nephropathic Cystinosis | Polydipsia | ORPHA:411629 | |
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 | |
Juvenile Nephropathic Cystinosis | Polydipsia | ORPHA:411634 | |
Gitelman Syndrome | Polydipsia, Salt craving | ORPHA:358 | |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness | Polydipsia | OMIM:602522 | |
Cystinosis, Nephropathic | Polydipsia, Dysphagia | OMIM:219800 | |
Proximal Renal Tubular Acidosis | Polydipsia | ORPHA:47159 | |
Autosomal Recessive Polycystic Kidney Disease | Polydipsia | ORPHA:731 | |
Bartter Syndrome, Type 2, Antenatal | Polydipsia | OMIM:241200 | |
Hypomagnesemia 3, Renal | Polydipsia | OMIM:248250 |
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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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