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 | Hyperactivity, Attention deficit hyperactivity disorder | OMIM:143465 | |
Schizophrenia 15 | Hyperactivity | OMIM:613950 | |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) | Hyperactivity | DECIPHER:20 | |
Intellectual Developmental Disorder, X-Linked 77 | Hyperactivity | OMIM:300454 | |
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 | |
Hereditary Central Diabetes Insipidus | Polydipsia | ORPHA:30925 | |
Senior-Loken Syndrome 4 | Polydipsia | OMIM:606996 | |
Familial Cold Urticaria | Dysesthesia, Polydipsia | ORPHA:47045 | |
Central Diabetes Insipidus | Polydipsia, Anorexia | ORPHA:178029 | |
Nephronophthisis-Like Nephropathy 2 | Polydipsia | OMIM:619468 | |
Acquired Central Diabetes Insipidus | Polydipsia | ORPHA:95626 | |
Bardet-Biedl Syndrome 9 | Polydipsia, Polyphagia | OMIM:615986 | |
East Syndrome | Polydipsia, Salt craving, Ataxia, Action tremor | ORPHA:199343 | |
Teratoma, Pineal | Polydipsia | OMIM:273120 | |
Ochoa Syndrome | Polydipsia | ORPHA:2704 | |
Familial Hyperaldosteronism Type I | Polydipsia | ORPHA:403 | |
Pediatric-Onset Graves Disease | Tremor, Hyperactivity, Polydipsia, Polyphagia | ORPHA:525731 | |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance | Salt craving, Ataxia, Dysdiadochokinesis, Polydipsia, Intention tremor | OMIM:612780 | |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome | Athetosis, Polydipsia | ORPHA:369929 | |
Cystinosis | Polydipsia, Abnormal repetitive mannerisms | ORPHA:213 | |
Hyperaldosteronism, Familial, Type Iii | Polydipsia | OMIM:613677 | |
Familial Hyperaldosteronism Type Iii | Polydipsia | ORPHA:251274 | |
Diabetes Insipidus, Nephrogenic, 2, Autosomal | Polydipsia | OMIM:125800 | |
Diabetes Insipidus, Nephrogenic, 1, X-Linked | Polydipsia | OMIM:304800 | |
Nephronophthisis 4 | Polydipsia | OMIM:606966 | |
Bardet-Biedl Syndrome 17 | Polydipsia | OMIM:615994 | |
Whipple Disease | Polydipsia, Ataxia, Anorexia | ORPHA:3452 | |
Senior-Loken Syndrome 3 | Polydipsia | OMIM:606995 | |
Nephrogenic Diabetes Insipidus | Polydipsia, Anorexia | ORPHA:223 | |
Nephronophthisis 3 | Polydipsia | OMIM:604387 | |
Primary Unilateral Adrenal Hyperplasia | Polydipsia | ORPHA:231580 | |
Nephronophthisis 1 | Polydipsia | OMIM:256100 | |
Gitelman Syndrome | Polydipsia, Salt craving, Ataxia, Paresthesia | OMIM:263800 | |
Apparent Mineralocorticoid Excess | Polydipsia | ORPHA:320 | |
Septo-Optic Dysplasia Spectrum | Polydipsia | ORPHA:3157 | |
Nephronophthisis 11 | Polydipsia | OMIM:613550 | |
Brain-Lung-Thyroid Syndrome | Hyperactivity, Ataxia, Abnormal eating behavior, Chorea, Abnormal drinking behavior, Choreoatheto... | ORPHA:209905 | |
Renal Hypoplasia | Polydipsia | ORPHA:93101 | |
Senior-Loken Syndrome 1 | Polydipsia | OMIM:266900 | |
Hyperparathyroidism, Neonatal Severe | Polydipsia | OMIM:239200 | |
Pituitary Dermoid And Epidermoid Cysts | Polydipsia | ORPHA:91351 | |
Senior-Boichis Syndrome | Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior | ORPHA:84081 | |
Helix Syndrome | Polydipsia | OMIM:617671 | |
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 | |
Hypomagnesemia 3, Renal | Polydipsia | OMIM:248250 | |
Arima Syndrome | Polydipsia, Ataxia | OMIM:243910 | |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome | Aggressive behavior, Impaired pain sensation, Self-injurious behavior, Compulsive behaviors, Poly... | 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 | |
Distal Renal Tubular Acidosis | Polydipsia | ORPHA:18 | |
Gitelman Syndrome | Polydipsia, Salt craving, Paresthesia | ORPHA:358 | |
Juvenile Nephropathic Cystinosis | Polydipsia | ORPHA:411634 | |
Cystinosis, Nephropathic | Polydipsia, Dysphagia, Oral-pharyngeal dysphagia | OMIM:219800 | |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness | Polydipsia | OMIM:602522 | |
Bartter Syndrome, Type 2, Antenatal | Polydipsia, Paresthesia | OMIM:241200 | |
Deafness, Autosomal Recessive 102 | Profound hearing impairment | OMIM:615974 | |
Proximal Renal Tubular Acidosis | Polydipsia | ORPHA:47159 | |
Autosomal Recessive Polycystic Kidney Disease | Polydipsia | ORPHA:731 |
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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