Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
charged multivesicular body protein 1A
Synonyms:
Pcoln3,  2900018H07Rik,  chromatin modifying protein 1A

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 Chmp1a 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 Chmp1a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pontocerebellar Hypoplasia, Type 8
Secondary microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Hypoplasia of t... OMIM:614961

The table below shows human diseases predicted to be associated to Chmp1a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Chudley-Mccullough Syndrome
Hydrocephalus, Gray matter heterotopia, Dysplastic corpus callosum, Cerebellar hypoplasia, Polymi... OMIM:604213
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Death in childhood, Elevated circulating creatine kinase concentration, Hypoplasia... OMIM:613153
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Cavum septum pellucidum, Microcephaly, Hypop... ORPHA:300573
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Leukoencephalopathy, Hydrocephalus, Optic nerve hypoplasia, Elevated circulating creatine kinase ... OMIM:615181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Encephalocele, Microcephaly, Elevated circulating creatine kinase concentration, P... OMIM:613150
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Holoprosencephaly 14
Hydrocephalus, Periventricular heterotopia, Alobar holoprosencephaly, Aqueductal stenosis, Gray m... OMIM:619895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hydrocephalus, Optic nerve hypoplasia, Microcephaly, Elevated circulating creatine kinase concent... OMIM:236670
Pontocerebellar Hypoplasia, Type 8
Secondary microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Hypoplasia of t... OMIM:614961

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 Chmp1a

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 Chmp1a.

No publications found that use IMPC mice or data for Chmp1a.

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MGI Allele Allele Type Produced
Chmp1atm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Chmp1atm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Chmp1atm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Chmp1atm119232(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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