- increased urine sodium level / MGI
- increased circulating magnesium level / MGI
- hydronephrosis / MGI
- kidney cortex cysts / MGI
- decreased body weight / MGI
- polydipsia / MGI
- polyuria / MGI
- kidney inflammation / MGI
- dilated renal tubules / MGI
- nephrolithiasis / MGI
- decreased urine osmolality / MGI
- renal interstitial fibrosis / MGI
- increased circulating creatinine level / MGI
- increased urine potassium level / MGI
- increased blood uric acid level / MGI
- decreased urine pH / MGI
- abnormal renal reabsorbtion / MGI
- prenatal lethality, incomplete penetrance / MGI
- renal tubule atrophy / MGI
- tubulointerstitial nephritis / MGI
- kidney cortex atrophy / MGI
- increased urine magnesium level / MGI
- uraturia / MGI
C57BL/6-Slc2a9tm1.2Thor/Biat
| Status | Available to order |
| EMMA ID | EM:06970 |
| Citation information | RRID:IMSR_EM:06970 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | C57BL/6-Slc2a9tm1.2Thor/Biat |
| Alternative name | SLC2A9-/- (Glut9KO); ILAR name: B6-Tgh(SLC2a9 L-)CIG |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Slc2a9tm1.2Thor |
| Gene/Transgene symbol | Slc2a9 |
Information from provider
| Provider | Frederic Preitner |
| Provider affiliation | Center for Integrative Genomics, University of Lausanne |
| Genetic information | Targeting vector with exon 4 flanked by loxP sites. Within loxP sites, neo selection marker is flanked by frt sites. After homologous recombination, neo selection marker removed in vivo by transgenic expression of flippase to generate conditional knock-out. Constitutive knock-out (whole-body) generated by Gt(ROSA)26Sor-cre-mediated deletion of exon 4. Deletion of exon 4 results in loss of function by generating a frameshift. The Gt(ROSA)26Sor-cre allele and flippase transgene were bred out by cross to wild-type C57BL/6J mice. |
| Phenotypic information | Heterozygous: no phenotype. Homozygous: hyperuricemia, hyperuricosuria, urate nephropathy. |
| Breeding history | Bred heterozygous x heterozygous |
| References |
|
| Homozygous fertile | not known |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | University of Veterinary Medicine, Vienna, Austria |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Hereditary renal hypouricemia / Orphanet_94088
MGI phenotypes (allele matching)
MGI phenotypes (gene matching)
- hydronephrosis / MGI
- kidney cortex cysts / MGI
- decreased body weight / MGI
- polydipsia / MGI
- polyuria / MGI
- kidney inflammation / MGI
- no abnormal phenotype detected / MGI
- dilated renal tubules / MGI
- nephrolithiasis / MGI
- decreased urine osmolality / MGI
- renal interstitial fibrosis / MGI
- increased circulating creatinine level / MGI
- increased urine potassium level / MGI
- increased urine sodium level / MGI
- increased blood uric acid level / MGI
- decreased urine pH / MGI
- increased circulating magnesium level / MGI
- abnormal renal reabsorbtion / MGI
- prenatal lethality, incomplete penetrance / MGI
- renal tubule atrophy / MGI
- tubulointerstitial nephritis / MGI
- kidney cortex atrophy / MGI
- increased urine magnesium level / MGI
- uraturia / MGI
Literature references
- Glut9 is a major regulator of urate homeostasis and its genetic inactivation induces hyperuricosuria and urate nephropathy.;Preitner Frédéric, Bonny Olivier, Laverrière Alexandra, Rotman Samuel, Firsov Dmitri, Da Costa Anabela, Metref Salima, Thorens Bernard, ;2009;Proceedings of the National Academy of Sciences of the United States of America;106;15501-6; 19706426
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