Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
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 |
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 |
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 |
---|---|---|
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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