Not currently registered for phenotyping at IMPC
Phenotyping is currently not planned for a knockout strain of this gene.
Gene Summary
IMPC Data Collections
- No Body Weight Data
- No Embryo Imaging Data
- No Viability Data
Phenotyping is currently not planned for a knockout strain of this gene.
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 Ntsr2 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Intellectual Developmental Disorder, Autosomal Recessive 54 | Exaggerated startle response | OMIM:617028 | |
Stiff Person Spectrum Disorder | Exaggerated startle response, Falls, Difficulty walking | ORPHA:3198 | |
Spastic Paraplegia, Optic Atrophy, And Neuropathy | Inability to walk, Exaggerated startle response | OMIM:609541 | |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures | Inability to walk, Exaggerated startle response | OMIM:620114 | |
Hyperekplexia-Epilepsy Syndrome | Exaggerated startle response | ORPHA:163985 | |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome | Exaggerated startle response, Difficulty walking | ORPHA:320406 | |
Aromatic L-Amino Acid Decarboxylase Deficiency | Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... | OMIM:608643 | |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures | Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia | OMIM:618056 | |
Spastic Tetraplegia And Axial Hypotonia, Progressive | Exaggerated startle response, Ataxia | OMIM:618598 | |
Leukodystrophy, Hypomyelinating, 13 | Exaggerated startle response, Ataxia | OMIM:616881 | |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation | Exaggerated startle response, Ataxia, Broad-based gait, Dystonia | ORPHA:438216 | |
Developmental And Epileptic Encephalopathy 68 | Exaggerated startle response | OMIM:618201 | |
Developmental And Epileptic Encephalopathy 8 | Exaggerated startle response | OMIM:300607 | |
Hyperekplexia 2 | Exaggerated startle response | OMIM:614619 | |
Hyperekplexia 3 | Exaggerated startle response | OMIM:614618 | |
Gm2 Gangliosidosis, Ab Variant | Exaggerated startle response, Dystonia | ORPHA:309246 | |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities | Inability to walk, Exaggerated startle response | OMIM:617864 | |
Tay-Sachs Disease | Exaggerated startle response, Tremor, Inability to walk, Dysmetria, Gait disturbance, Dystonia, L... | ORPHA:845 | |
Stiff-Person Syndrome | Exaggerated startle response, Opisthotonus | OMIM:184850 | |
Hyperekplexia 1 | Exaggerated startle response | OMIM:149400 | |
Tay-Sachs Disease | Exaggerated startle response | OMIM:272800 | |
Gm2-Gangliosidosis, Ab Variant | Exaggerated startle response, Dystonia | OMIM:272750 | |
Sandhoff Disease | Exaggerated startle response, Ataxia | OMIM:268800 | |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities | Tremor, Exaggerated startle response | OMIM:620327 | |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome | Exaggerated startle response | OMIM:608800 | |
Sandhoff Disease, Infantile Form | Exaggerated startle response | ORPHA:309155 | |
Glycine Encephalopathy With Normal Serum Glycine | Exaggerated startle response | OMIM:617301 | |
Developmental And Epileptic Encephalopathy 49 | Exaggerated startle response | OMIM:617281 | |
Plaa-Associated Neurodevelopmental Disorder | Exaggerated startle response, Dystonia | ORPHA:521426 | |
Gm1 Gangliosidosis Type 1 | Exaggerated startle response, Dystonia | ORPHA:79255 | |
Asparagine Synthetase Deficiency | Tremor, Exaggerated startle response | OMIM:615574 | |
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 | |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome | Inability to walk, Exaggerated startle response, Broad-based gait, Dystonia | ORPHA:438213 | |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination | Exaggerated startle response | OMIM:618367 | |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities | Exaggerated startle response | OMIM:619522 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Ntsr2tm1e(KOMP)Mbp | Targeted, non-conditional allele | ES Cells |
Ntsr2tm1a(KOMP)Mbp | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
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