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 Serpinh1 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Preterm Premature Rupture Of The Membranes | OMIM:610504 | ||
Osteogenesis Imperfecta, Type X | OMIM:613848 |
The table below shows human diseases predicted to be associated to Serpinh1 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 | Neural tube defect | OMIM:615041 | |
Neural Tube Defects, Folate-Sensitive | Spinal dysraphism | OMIM:601634 | |
Spina Bifida-Hypospadias Syndrome | Spinal dysraphism, Spina bifida | ORPHA:3176 | |
Myelopathy, Htlv-1-Associated | Myelopathy | OMIM:159580 | |
Anencephaly 1 | Anencephaly, Spina bifida | OMIM:206500 | |
Fryns Microphthalmia Syndrome | Neural tube defect | OMIM:600776 | |
Craniorachischisis | Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly | ORPHA:63260 | |
Blepharocheilodontic Syndrome 1 | Neural tube defect | OMIM:119580 | |
Isolated Posterior Meningocele | Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect | ORPHA:268810 | |
Preterm Premature Rupture Of The Membranes | OMIM:610504 | ||
Osteogenesis Imperfecta, Type X | OMIM:613848 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Serpinh1tm114915(L1L2_Pgk_P) | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors |
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