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 associated to Stx1b by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Generalized Epilepsy With Febrile Seizures-Plus | Ataxia, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizur... | ORPHA:36387 | |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 | Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... | OMIM:616172 |
The table below shows human diseases predicted to be associated to Stx1b by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Myoclonic Epilepsy, Familial Infantile | Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, Gait ataxia,... | OMIM:605021 | |
Generalized Epilepsy With Febrile Seizures-Plus | Ataxia, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizur... | ORPHA:36387 | |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 | Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... | OMIM:616172 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Stx1btm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
Stx1btm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
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