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Gene: Ube2h MGI:104632

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Gene Summary

Name:
ubiquitin-conjugating enzyme E2H
Synonyms:
Ubc8,  1500009C23Rik,  E2-20K,  Gid3

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 startle reflex Ube2htm1b(EUCOMM)Hmgu HET Early adult 3.55×10-08

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 Ube2h 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 Ube2h by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... OMIM:608643
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Tay-Sachs Disease
Tremor, Laryngeal dystonia, Dystonia, Exaggerated startle response ORPHA:845
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Sandhoff Disease
Exaggerated startle response OMIM:268800
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Combined Oxidative Phosphorylation Deficiency 58
Exaggerated startle response OMIM:620451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Exaggerated startle response OMIM:620423
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
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 Ube2h

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 Ube2h.

No publications found that use IMPC mice or data for Ube2h.

Order Mouse and ES Cells

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
Ube2htm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ube2htm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Ube2htm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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