Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- No 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 associated to Eps8 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Deafness, Autosomal Recessive 102 | Profound hearing impairment | OMIM:615974 |
The table below shows human diseases predicted to be associated to Eps8 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Attention Deficit-Hyperactivity Disorder | Attention deficit hyperactivity disorder, Hyperactivity | OMIM:143465 | |
Schizophrenia 15 | Hyperactivity | OMIM:613950 | |
Renal Glucosuria | Polyphagia, Polydipsia | OMIM:233100 | |
Type 1 Diabetes Mellitus | Polyphagia, Polydipsia | OMIM:222100 | |
Kleine-Levin Syndrome | Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... | ORPHA:33543 | |
Hereditary Central Diabetes Insipidus | Polydipsia | ORPHA:30925 | |
Senior-Loken Syndrome 4 | Polydipsia | OMIM:606996 | |
Familial Cold Urticaria | Polydipsia, Dysesthesia | ORPHA:47045 | |
Central Diabetes Insipidus | Polydipsia, Anorexia | ORPHA:178029 | |
Nephronophthisis-Like Nephropathy 2 | Polydipsia | OMIM:619468 | |
Nephronophthisis 9 | Polydipsia | OMIM:613824 | |
Acquired Central Diabetes Insipidus | Polydipsia | ORPHA:95626 | |
Bardet-Biedl Syndrome 9 | Polyphagia, Polydipsia | OMIM:615986 | |
East Syndrome | Salt craving, Polydipsia, Action tremor, Ataxia | ORPHA:199343 | |
Teratoma, Pineal | Polydipsia | OMIM:273120 | |
Ochoa Syndrome | Polydipsia | ORPHA:2704 | |
Familial Hyperaldosteronism Type I | Polydipsia | ORPHA:403 | |
Pediatric-Onset Graves Disease | Polyphagia, Polydipsia, Hyperactivity, Tremor | ORPHA:525731 | |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome | Athetosis, Polydipsia | ORPHA:369929 | |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance | Polydipsia, Dysdiadochokinesis, Salt craving, Ataxia, Intention tremor | OMIM:612780 | |
Cystinosis | Polydipsia, Motor stereotypy | ORPHA:213 | |
Familial Hyperaldosteronism Type Iii | Polydipsia | ORPHA:251274 | |
Diabetes Insipidus, Nephrogenic, 2, Autosomal | Polydipsia | OMIM:125800 | |
Hyperaldosteronism, Familial, Type Iii | Polydipsia | OMIM:613677 | |
Diabetes Insipidus, Nephrogenic, 1, X-Linked | Polydipsia | OMIM:304800 | |
Nephronophthisis 4 | Polydipsia | OMIM:606966 | |
Whipple Disease | Ataxia, Polydipsia, Anorexia | ORPHA:3452 | |
Bardet-Biedl Syndrome 17 | Polydipsia | OMIM:615994 | |
Senior-Loken Syndrome 3 | Polydipsia | OMIM:606995 | |
Nephrogenic Diabetes Insipidus | Polydipsia, Anorexia | ORPHA:223 | |
Nephronophthisis 1 | Polydipsia | OMIM:256100 | |
Primary Unilateral Adrenal Hyperplasia | Polydipsia | ORPHA:231580 | |
Apparent Mineralocorticoid Excess | Polydipsia | ORPHA:320 | |
Gitelman Syndrome | Salt craving, Paresthesia, Polydipsia, Ataxia | OMIM:263800 | |
Septo-Optic Dysplasia Spectrum | Polydipsia | ORPHA:3157 | |
Brain-Lung-Thyroid Syndrome | Chorea, Abnormal eating behavior, Intention tremor, Abnormal drinking behavior, Hyperactivity, At... | ORPHA:209905 | |
Nephronophthisis 11 | Polydipsia | OMIM:613550 | |
Nephronophthisis 3 | Polydipsia | OMIM:604387 | |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 | Polydipsia | OMIM:617994 | |
Renal Hypoplasia | Polydipsia | ORPHA:93101 | |
Senior-Loken Syndrome 1 | Polydipsia | OMIM:266900 | |
Pituitary Dermoid And Epidermoid Cysts | Polydipsia | ORPHA:91351 | |
Senior-Boichis Syndrome | Aggressive behavior, Attention deficit hyperactivity disorder, Polydipsia, Agitation | ORPHA:84081 | |
Helix Syndrome | Polydipsia | OMIM:617671 | |
Hyperparathyroidism, Neonatal Severe | Polydipsia | OMIM:239200 | |
Panhypophysitis | Polydipsia | ORPHA:95513 | |
Erdheim-Chester Disease | Polydipsia, Ataxia | ORPHA:35687 | |
Wolfram Syndrome | Polydipsia, Ataxia | ORPHA:3463 | |
Oligomeganephronia | Polydipsia | ORPHA:2260 | |
Toxic Epidermal Necrolysis | Polydipsia, Dysphagia | ORPHA:537 | |
Rabson-Mendenhall Syndrome | Polydipsia | ORPHA:769 | |
Arima Syndrome | Polydipsia, Ataxia | OMIM:243910 | |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome | Self-injurious behavior, Polydipsia, Impaired pain sensation, Polyphagia, Aggressive behavior, Co... | ORPHA:293987 | |
Infantile Nephropathic Cystinosis | Polydipsia | ORPHA:411629 | |
Hyperparathyroidism-Jaw Tumor Syndrome | Polydipsia, Dysphagia | ORPHA:99880 | |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease | Polydipsia | ORPHA:93111 | |
Parathyroid Carcinoma | Polydipsia, Dysphagia | ORPHA:143 | |
Gitelman Syndrome | Salt craving, Paresthesia, Polydipsia | ORPHA:358 | |
Distal Renal Tubular Acidosis | Polydipsia | ORPHA:18 | |
Juvenile Nephropathic Cystinosis | Polydipsia | ORPHA:411634 | |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness | Polydipsia | OMIM:602522 | |
Cystinosis, Nephropathic | Polydipsia, Dysphagia | OMIM:219800 | |
Bartter Syndrome, Type 2, Antenatal | Paresthesia, Polydipsia | OMIM:241200 | |
Proximal Renal Tubular Acidosis | Polydipsia | ORPHA:47159 | |
Deafness, Autosomal Recessive 102 | Profound hearing impairment | OMIM:615974 | |
Autosomal Recessive Polycystic Kidney Disease | Polydipsia | ORPHA:731 | |
Hypomagnesemia 3, Renal | Polydipsia | OMIM:248250 |
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 Eps8.
There are 1 publication which use IMPC produced mice or data.
Title | Journal | IMPC Allele | PubMed ID |
---|---|---|---|
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. | Nature communications (October 2017) | Eps8l1tm2b(KOMP)Wtsi | PMC5638796 |
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 |
---|---|---|
Eps8tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
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