Gene Summary

Name:
epidermal growth factor receptor pathway substrate 8
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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
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
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Familial Cold Urticaria
Dysesthesia, Polydipsia ORPHA:47045
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polydipsia OMIM:304900
Central Diabetes Insipidus
Polydipsia ORPHA:178029
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
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Polydipsia, Ataxia, Intention tremor, Salt craving, Dysdiadochokinesis OMIM:612780
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Athetosis ORPHA:369929
Pediatric-Onset Graves Disease
Polyphagia, Polydipsia, Tremor ORPHA:525731
Familial Hyperaldosteronism Type Iii
Polydipsia ORPHA:251274
Bardet-Biedl Syndrome 17
Polydipsia OMIM:615994
Nephronophthisis 4
Polydipsia OMIM:606966
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia OMIM:304800
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Cystinosis
Polydipsia ORPHA:213
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Nephronophthisis 3
Polydipsia OMIM:604387
Whipple Disease
Polydipsia, Ataxia ORPHA:3452
Nephronophthisis 1
Polydipsia OMIM:256100
Gitelman Syndrome
Paresthesia, Salt craving, Polydipsia, Ataxia OMIM:263800
Primary Unilateral Adrenal Hyperplasia
Polydipsia ORPHA:231580
Apparent Mineralocorticoid Excess
Polydipsia ORPHA:320
Nephronophthisis 11
Polydipsia OMIM:613550
Nephrogenic Diabetes Insipidus
Polydipsia ORPHA:223
Septo-Optic Dysplasia Spectrum
Polydipsia ORPHA:3157
Renal Hypoplasia
Polydipsia ORPHA:93101
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Hyperparathyroidism, Neonatal Severe
Polydipsia OMIM:239200
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Helix Syndrome
Polydipsia OMIM:617671
Oligomeganephronia
Polydipsia ORPHA:2260
Panhypophysitis
Polydipsia ORPHA:95513
Wolfram Syndrome
Polydipsia, Ataxia ORPHA:3463
Erdheim-Chester Disease
Polydipsia, Ataxia ORPHA:35687
Rabson-Mendenhall Syndrome
Polydipsia ORPHA:769
Hypomagnesemia 3, Renal
Polydipsia OMIM:248250
Toxic Epidermal Necrolysis
Dysphagia, Polydipsia ORPHA:537
Senior-Boichis Syndrome
Polydipsia ORPHA:84081
Infantile Nephropathic Cystinosis
Polydipsia ORPHA:411629
Hyperparathyroidism-Jaw Tumor Syndrome
Dysphagia, Polydipsia ORPHA:99880
Gitelman Syndrome
Paresthesia, Salt craving, Polydipsia ORPHA:358
Parathyroid Carcinoma
Dysphagia, Polydipsia ORPHA:143
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia ORPHA:93111
Distal Renal Tubular Acidosis
Polydipsia ORPHA:18
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polyphagia, Polydipsia, Impaired pain sensation ORPHA:293987
Juvenile Nephropathic Cystinosis
Polydipsia ORPHA:411634
Cystinosis, Nephropathic
Dysphagia, Polydipsia, Oral-pharyngeal dysphagia OMIM:219800
Deafness, Autosomal Recessive 102
Profound hearing impairment OMIM:615974
Bartter Syndrome, Type 2, Antenatal
Paresthesia, Polydipsia OMIM:241200
Proximal Renal Tubular Acidosis
Polydipsia ORPHA:47159
Autosomal Recessive Polycystic Kidney Disease
Polydipsia ORPHA:731

Histopathology

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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