Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
peroxisomal biogenesis factor 11 beta
Synonyms:
N/A

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 Pex11b 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 Pex11b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Zellweger Syndrome
Hepatomegaly, Death in infancy, Failure to thrive, Wide anterior fontanel, Polymicrogyria, Hepati... ORPHA:912
Neonatal Adrenoleukodystrophy
Abnormality of the liver, Wide anterior fontanel ORPHA:44
Infantile Refsum Disease
Failure to thrive, Hepatomegaly ORPHA:772
Peroxisome Biogenesis Disorder 14B
OMIM:614920

The table below shows human diseases predicted to be associated to Pex11b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Cerebellar dysplasia, Polymi... OMIM:604213
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia OMIM:616531
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Type II lissencephaly OMIM:615041
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Lissenc... OMIM:613153
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Leukoencephalopathy, Polymicrogyri... OMIM:615181
Poretti-Boltshauser Syndrome
Cerebellar cyst, Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gr... OMIM:615960
Bilateral Frontoparietal Polymicrogyria
Cerebellar dysplasia, Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal cerebellum m... ORPHA:101070
Mental Retardation, Autosomal Dominant 48
Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Dilated fourth ventricle, Cerebellar v... OMIM:617751
Joubert Syndrome 23
Cerebellar dysplasia, Dysplastic corpus callosum OMIM:616490
Crome Syndrome
Cerebellar dysplasia, Renal tubular epithelial necrosis, Microcephaly OMIM:218900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Cerebellar dysplasia, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Microcephaly OMIM:613155
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Dilated fourth ventricle, Inferior vermis hypoplasia, Elon... ORPHA:370022
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Cerebellar dysplasia, Patent ductus arteriosus, Polymicrogyria, Cerebellar hypoplasia, Abnormal p... ORPHA:500159
Alkuraya-Kucinskas Syndrome
Cerebellar dysplasia, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Cerebellar hypopl... OMIM:617822
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar cyst, Partial absence of cerebellar vermis, Cerebellar dysplasia, Pachygyria, Hydrocep... OMIM:613150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Dandy-Walker malformation, Cerebellar dysplasia, Pachygyria, Hypoplasia of the corpus callosum, P... OMIM:236670
47,Xyy Syndrome
Cerebellar dysplasia, Hydrocephalus, Dysgenesis of the cerebellar vermis, Increased circulating g... ORPHA:8
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Cerebellar dysplasia, Poorly formed metencephalon OMIM:601374
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cerebellar cyst, Cerebellar dysplasia, Pachygyria, Polymicrogyria, Aplasia/Hypoplasia of the corp... OMIM:253280
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Cerebellar dysplasia, Bilateral perisylvian polymicrogyria, Pe... ORPHA:98889
Zellweger Syndrome
Hepatomegaly, Death in infancy, Failure to thrive, Wide anterior fontanel, Polymicrogyria, Hepati... ORPHA:912
Neonatal Adrenoleukodystrophy
Abnormality of the liver, Wide anterior fontanel ORPHA:44
Infantile Refsum Disease
Failure to thrive, Hepatomegaly ORPHA:772
Peroxisome Biogenesis Disorder 14B
OMIM:614920

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 Pex11b

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 Pex11b.

No publications found that use IMPC mice or data for Pex11b.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Pex11btm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pex11btm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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