Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
serine (or cysteine) peptidase inhibitor, clade H, member 1
Synonyms:
Cbp1,  gp46,  colligin,  Serpinh2,  J6,  Cbp2,  Hsp47

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Serpinh1 mutations

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
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Posterior Meningocele
Occipital meningocele, Hydrocephalus, Neural tube defect, Meningocele, Lipomyelomeningocele ORPHA:268810
Preterm Premature Rupture Of The Membranes
OMIM:610504
Osteogenesis Imperfecta, Type X
OMIM:613848

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Serpinh1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Serpinh1.

No publications found that use IMPC mice or data for Serpinh1.

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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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