Gene Summary

epidermal growth factor receptor pathway substrate 8

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased vertical activity Eps8tm1Ppdf HOM Early adult 4.99×10-05
decreased body weight Eps8tm1Ppdf HOM Early adult 6.49×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 Eps8 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 Eps8 by orthology or direct annotation.

Disease Similarity of
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
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
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
Polydipsia ORPHA:95513
Erdheim-Chester Disease
Polydipsia, Ataxia ORPHA:35687
Wolfram Syndrome
Polydipsia, Ataxia ORPHA:3463
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


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 Eps8

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 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

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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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