Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- No Viability Data
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 Nyap1 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Hyperekplexia 3 | Exaggerated startle response | OMIM:614618 | |
Developmental And Epileptic Encephalopathy 8 | Exaggerated startle response | OMIM:300607 | |
Hyperekplexia 2 | Exaggerated startle response | OMIM:614619 | |
Hyperekplexia-Epilepsy Syndrome | Exaggerated startle response | ORPHA:163985 | |
Developmental And Epileptic Encephalopathy 68 | Exaggerated startle response | OMIM:618201 | |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination | Exaggerated startle response | OMIM:618367 | |
Spastic Paraplegia, Optic Atrophy, And Neuropathy | Exaggerated startle response | OMIM:609541 | |
Spastic Tetraplegia And Axial Hypotonia, Progressive | Exaggerated startle response | OMIM:618598 | |
Hyperekplexia 1 | Exaggerated startle response | OMIM:149400 | |
Stiff Person Spectrum Disorder | Exaggerated startle response | ORPHA:3198 | |
Tay-Sachs Disease | Exaggerated startle response | OMIM:272800 | |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome | Exaggerated startle response | ORPHA:320406 | |
Stiff-Person Syndrome | Opisthotonus, Exaggerated startle response | OMIM:184850 | |
Gm2 Gangliosidosis, Ab Variant | Exaggerated startle response | ORPHA:309246 | |
Gm2-Gangliosidosis, Ab Variant | Exaggerated startle response | OMIM:272750 | |
Asparagine Synthetase Deficiency | Exaggerated startle response | OMIM:615574 | |
Aromatic L-Amino Acid Decarboxylase Deficiency | Limb tremor, Exaggerated startle response | OMIM:608643 | |
Glycine Encephalopathy With Normal Serum Glycine | Exaggerated startle response | OMIM:617301 | |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation | Exaggerated startle response | ORPHA:438216 | |
Sandhoff Disease | Exaggerated startle response | OMIM:268800 | |
Tay-Sachs Disease | Tremor, Exaggerated startle response | ORPHA:845 | |
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 | |
Plaa-Associated Neurodevelopmental Disorder | Exaggerated startle response | ORPHA:521426 | |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities | Exaggerated startle response | OMIM:619522 | |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome | Exaggerated startle response | ORPHA:438213 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Nyap1em1(IMPC)Bay | Exon Deletion | Mice |
Nyap1tm1e(KOMP)Wtsi | Targeted, non-conditional allele | ES Cells |
Nyap1tm45130(L1L2_gt1) | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors |
Nyap1tm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
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