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Gene: Pqbp1 MGI:1859638

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Gene Summary

Name:
polyglutamine binding protein 1
Synonyms:
Sfc2

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal embryo size Pqbp1em1(IMPC)Tcp HEM E15.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Human diseases caused by Pqbp1 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 Pqbp1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
ORPHA:93947
X-Linked Intellectual Disability, Porteous Type
ORPHA:93945
Hamel Cerebro-Palato-Cardiac Syndrome
ORPHA:93946
Renpenning Syndrome 1
OMIM:309500
X-Linked Intellectual Disability, Sutherland-Haan Type
ORPHA:93950

The table below shows human diseases predicted to be associated to Pqbp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
ORPHA:93947
X-Linked Intellectual Disability, Porteous Type
ORPHA:93945
Hamel Cerebro-Palato-Cardiac Syndrome
ORPHA:93946
Renpenning Syndrome 1
OMIM:309500
X-Linked Intellectual Disability, Sutherland-Haan Type
ORPHA:93950

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 Pqbp1

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 Pqbp1.

No publications found that use IMPC mice or data for Pqbp1.

Order Mouse and ES Cells

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
Pqbp1tm88504(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pqbp1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Pqbp1em1(IMPC)Tcp Exon Deletion Mice

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