Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
potassium voltage-gated channel, subfamily H (eag-related), member 1
Synonyms:
Kv10.1,  ether a go-go,  Eag1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Kcnh1 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 Kcnh1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Zimmermann-Laband Syndrome
ORPHA:3473
Zimmermann-Laband Syndrome 1
OMIM:135500
Temple-Baraitser Syndrome
ORPHA:420561
Temple-Baraitser Syndrome
OMIM:611816

The table below shows human diseases predicted to be associated to Kcnh1 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 59
Aggressive behavior OMIM:617323
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Panic Disorder 1
Anxiety OMIM:167870
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Immunodeficiency 8
Hyperactivity OMIM:615401
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity OMIM:617796
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Developmental And Epileptic Encephalopathy 43
Hyperactivity OMIM:617113
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity OMIM:616657
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Early-Onset Schizophrenia
Suicidal ideation, Unhappy demeanor, Anxiety, Anhedonia, Emotional lability, Irritability, Abnorm... ORPHA:96369
Microcephaly, Seizures, And Developmental Delay
Hyperactivity OMIM:613402
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Morm Syndrome
Hyperactivity ORPHA:75858
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Hyperprolinemia, Type I
Hyperactivity OMIM:239500
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity OMIM:618090
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Histidinemia
Hyperactivity ORPHA:2157
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Zimmermann-Laband Syndrome
ORPHA:3473
Zimmermann-Laband Syndrome 1
OMIM:135500
Temple-Baraitser Syndrome
ORPHA:420561
Temple-Baraitser Syndrome
OMIM:611816

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 Kcnh1

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 Kcnh1.

No publications found that use IMPC mice or data for Kcnh1.

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MGI Allele Allele Type Produced
Kcnh1tm42903(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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