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 predicted to be associated to Pnma3 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion | Hypouricemia | OMIM:307830 | |
Lactic Acidosis, Chronic Adult Form | Hyperuricemia | OMIM:150170 | |
Hypouricemia, Renal, 2 | Hypouricemia | OMIM:612076 | |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density | Hypouricemia | OMIM:242050 | |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria | Hyperuricemia | OMIM:609886 | |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase | Hyperuricemia | OMIM:240000 | |
Lesch-Nyhan Phenotype With Normal Hgprt | Hyperuricemia | OMIM:308950 | |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency | Hyperuricemia | ORPHA:371 | |
Lesch-Nyhan Syndrome | Hyperuricemia | ORPHA:510 | |
Hyperuricemic Nephropathy, Familial Juvenile, 3 | Hyperuricemia | OMIM:614227 | |
Hyperuricemia, Hprt-Related | Hyperuricemia | OMIM:300323 | |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 | Hyperuricemia | OMIM:162000 | |
Cystinuria | Hyperuricemia | ORPHA:214 | |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency | Hyperuricemia | ORPHA:364 | |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 | Hyperuricemia | OMIM:613092 | |
Xanthinuria, Type Ii | Hypouricemia | OMIM:603592 | |
Glycogen Storage Disease Ixb | Hyperuricemia | OMIM:261750 | |
Phosphoribosylpyrophosphate Synthetase Superactivity | Hyperuricemia | ORPHA:3222 | |
Glycogen Storage Disease Ixa1 | Hyperuricemia | OMIM:306000 | |
Glycogen Storage Disease V | Hyperuricemia | OMIM:232600 | |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 | Hyperuricemia | OMIM:617056 | |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity | Hyperuricemia | ORPHA:411536 | |
Xanthinuria, Type I | Hypouricemia | OMIM:278300 | |
Medullary cystic kidney disease 2 | Hyperuricemia | OMIM:603860 | |
Hypouricemia, Renal, 1 | Hypouricemia | OMIM:220150 | |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency | Hyperuricemia | ORPHA:79233 |
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 |
---|---|---|
Pnma3em1(IMPC)Rbrc | Intra-exon deletion | Mice |
Pnma3tm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | ES Cells |
Get highlights of the most important data releases, news and events, delivered straight to your email inbox
Subscribe to newsletter