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 5
Synonyms:
N/A

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 Kcnh5 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Kcnh5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Panic Disorder 1
Anxiety OMIM:167870
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Dystonia 11, Myoclonic
Anxiety, Agoraphobia, Torticollis, Depression, Writer's cramp, Tremor OMIM:159900
Myoclonus-Dystonia Syndrome
Dystonia, Anxiety, Panic attack, Personality disorder, Torticollis, Depression, Writer's cramp ORPHA:36899
Dystonia 26, Myoclonic
Dystonia, Blepharospasm, Anxiety, Laryngeal dystonia, Torticollis, Depression OMIM:616398
Huntington Disease-Like 2
Action tremor, Dystonia, Anxiety, Apathy, Irritability, Depression OMIM:606438
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Stiff Person Spectrum Disorder
Emotional lability, Anxiety, Agoraphobia, Exaggerated startle response ORPHA:3198
Gm2 Gangliosidosis, Ab Variant
Dystonia, Anxiety, Inappropriate behavior, Exaggerated startle response, Abnormal fear/anxiety-re... ORPHA:309246
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Anxiety, Blepharospasm, Leg dystonia, Postural tremor OMIM:606324
Stiff-Person Syndrome
Opisthotonus, Anxiety, Exaggerated startle response, Depression, Agoraphobia OMIM:184850
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Emotional lability, Irritability, Lim... OMIM:608643
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Tay-Sachs Disease
Apathy, Exaggerated startle response OMIM:272800
Gm2-Gangliosidosis, Ab Variant
Apathy, Dystonia, Exaggerated startle response OMIM:272750
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Anxiety, Dystonia, Exaggerated startle response ORPHA:438216
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Tay-Sachs Disease
Dystonia, Anxiety, Laryngeal dystonia, Exaggerated startle response, Depression, Tremor ORPHA:845
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Sandhoff Disease
Exaggerated startle response OMIM:268800
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Exaggerated startle response ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

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 Kcnh5

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 Kcnh5.

No publications found that use IMPC mice or data for Kcnh5.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Kcnh5tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Kcnh5tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Kcnh5tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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