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Gene: Pomt2 MGI:2444430

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
protein-O-mannosyltransferase 2
Synonyms:
A830009D15Rik

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IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Pomt2 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 Pomt2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscle-Eye-Brain Disease
Meningocele ORPHA:588
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele OMIM:613150
Congenital Muscular Dystrophy With Intellectual Disability
ORPHA:370968
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
OMIM:613156
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
OMIM:613158
Walker-Warburg Syndrome
ORPHA:899
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
ORPHA:206559

The table below shows human diseases predicted to be associated to Pomt2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscle-Eye-Brain Disease
Meningocele ORPHA:588
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele OMIM:613150
Congenital Muscular Dystrophy With Intellectual Disability
ORPHA:370968
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
OMIM:613156
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
OMIM:613158
Walker-Warburg Syndrome
ORPHA:899
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
ORPHA:206559

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 Pomt2

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 Pomt2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Impairment of photoreceptor ribbon synapses in a novel Pomt1 conditional knockout mouse model of dystroglycanopathy. Scientific reports (June 2018) Pomt2tm1a(EUCOMM)Hmgu PMC5986861

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Pomt2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Pomt2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Pomt2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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