Gene Summary

Name:
phosphoribosyl pyrophosphate synthetase 1
Synonyms:
Prps-1,  2310010D17Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Prps1tm1b(EUCOMM)Wtsi HOM   Early adult 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.

X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

7 Images

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

X-ray

XRay Images Forepaw

7 Images

X-ray

XRay Images Skull Lateral Orientation

7 Images

Legacy Phenotype Associated Images

View all 114 images

Human diseases caused by Prps1 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 Prps1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, X-Linked 1
OMIM:304500
X-Linked Charcot-Marie-Tooth Disease Type 5
ORPHA:99014
Lethal Ataxia With Deafness And Optic Atrophy
ORPHA:1187
Phosphoribosylpyrophosphate Synthetase Superactivity
OMIM:300661
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
ORPHA:411543
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
ORPHA:423479
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
ORPHA:411536
Arts Syndrome
OMIM:301835
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
OMIM:311070

The table below shows human diseases predicted to be associated to Prps1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, X-Linked 1
OMIM:304500
X-Linked Charcot-Marie-Tooth Disease Type 5
ORPHA:99014
Lethal Ataxia With Deafness And Optic Atrophy
ORPHA:1187
Phosphoribosylpyrophosphate Synthetase Superactivity
OMIM:300661
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
ORPHA:411543
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
ORPHA:423479
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
ORPHA:411536
Arts Syndrome
OMIM:301835
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
OMIM:311070

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 Prps1

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 Prps1.

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

Title Journal IMPC Allele PubMed ID
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Prps1tm1a(EUCOMM)Wtsi PMC6459510

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MGI Allele Allele Type Produced
Prps1tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Prps1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Prps1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Prps1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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