Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
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 |
---|---|---|---|---|---|---|
preweaning lethality, incomplete penetrance | Ubn1em1(IMPC)J | HOM | Early adult | 0.00 | ||
increased circulating alanine transaminase level | Ubn1em1(IMPC)J | HOM | Early adult | 1.49×10-09 | ||
increased startle reflex | Ubn1em1(IMPC)J | HOM | Early adult | 4.87×10-07 | ||
limb grasping | Ubn1em1(IMPC)J | HOM | Early adult | 5.45×10-05 |
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 predicted to be associated to Ubn1 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 | |
Developmental And Epileptic Encephalopathy 8 | Exaggerated startle response | OMIM:300607 | |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination | Exaggerated startle response | OMIM:618367 | |
Hyperekplexia 2 | Exaggerated startle response | OMIM:614619 | |
Hyperekplexia 3 | Exaggerated startle response | OMIM:614618 | |
Aromatic L-Amino Acid Decarboxylase Deficiency | Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... | OMIM:608643 | |
Gm2 Gangliosidosis, Ab Variant | Exaggerated startle response, Dystonia | ORPHA:309246 | |
Stiff Person Spectrum Disorder | Exaggerated startle response | ORPHA:3198 | |
Hyperekplexia 1 | Exaggerated startle response | OMIM:149400 | |
Spastic Paraplegia, Optic Atrophy, And Neuropathy | Exaggerated startle response | OMIM:609541 | |
Tay-Sachs Disease | Exaggerated startle response | OMIM:272800 | |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome | Exaggerated startle response | ORPHA:320406 | |
Spastic Tetraplegia And Axial Hypotonia, Progressive | Exaggerated startle response | OMIM:618598 | |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures | Exaggerated startle response | OMIM:620114 | |
Stiff-Person Syndrome | Exaggerated startle response, Opisthotonus | OMIM:184850 | |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures | Truncal titubation, Exaggerated startle response, Tremor | OMIM:618056 | |
Gm2-Gangliosidosis, Ab Variant | Exaggerated startle response, Dystonia | OMIM:272750 | |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome | Exaggerated startle response | OMIM:608800 | |
Sandhoff Disease, Infantile Form | Exaggerated startle response | ORPHA:309155 | |
Leukodystrophy, Hypomyelinating, 13 | Exaggerated startle response | OMIM:616881 | |
Tay-Sachs Disease | Increased serum beta-hexosaminidase, Exaggerated startle response, Tremor, Laryngeal dystonia, Dy... | ORPHA:845 | |
Asparagine Synthetase Deficiency | Exaggerated startle response | OMIM:615574 | |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation | Exaggerated startle response, Dystonia | ORPHA:438216 | |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities | Exaggerated startle response | OMIM:617864 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 | Exaggerated startle response, Elevated circulating creatine kinase concentration | OMIM:253800 | |
Glycine Encephalopathy With Normal Serum Glycine | Exaggerated startle response | OMIM:617301 | |
Sandhoff Disease | Exaggerated startle response | OMIM:268800 | |
Gm1 Gangliosidosis Type 1 | Exaggerated startle response, Dystonia | ORPHA:79255 | |
Plaa-Associated Neurodevelopmental Disorder | Exaggerated startle response, Dystonia | ORPHA:521426 | |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies | Exaggerated startle response | OMIM:617527 | |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome | Exaggerated startle response, Decreased serum iron, Dystonia | ORPHA:438213 | |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities | Exaggerated startle response | OMIM:619522 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Ubn1em1(IMPC)J | Indel | Mice |
Ubn1tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
Ubn1tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
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