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Allele Symbol Allele Name Allele ID |
Slc41a3tm1a(KOMP)Wtsi targeted mutation 1a, Wellcome Trust Sanger Institute MGI:4365235 |
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| Summary |
4 genotypes
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Data Sources
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• homozygotes exhibit normal serum and urinary Ca2+ levels on both a normal and a low Mg2+ diet relative to wild-type controls
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• at 8-12 weeks of age, homozygotes exhibit hypomagnesemia and normomagnesiuria indicating a possible renal Mg2+ leak
• after 10 days on a low Mg2+ diet, homozygotes display normal intestinal Mg2+ absorption relative to wild-type controls, potentially due to a compensatory mechanism that includes increased expression of intestinal Mg2+ transporters Trpm6 and Slc41a1 in the duodenum and colon
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• on a normal Mg2+ diet, homozygotes display a 29% reduction in serum Mg2+ levels relative to wild-type controls; however, urinary Mg2+ excretion is normal
• after 14 days on a low Mg2+ diet, homozygotes show no significant differences in serum Mg2+ levels or urinary Mg2+ excretion relative to wild-type controls, although their serum levels are reduced to a similar extent as on the normal diet (26%)
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• on a low Mg2+ diet, 10% of male homozygotes show a severe increase in the size of the left kidney due to hydronephrosis
• kidney volume is 6- to 8-fold larger than the other kidney in the same mouse and results in severe organ rearrangement in the peritoneal cavity
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• on a low Mg2+ diet, 10% of male homozygotes develop a unilateral hydronephrotic kidney originating in the renal calyx or renal pelvis, as suggested by the presence of transitional epithelium and umbrella cells around the dilated tissue and the absence of dilated ureters
• major parts of the tissue lining the fluid-filled cavity are not covered with transitional epithelium but consist of fibrous connective tissue with flattened epithelium or lack of epithelium
• no Ca2+ deposits are detected in the hydronephrotic kidney by Alizarin red staining
• hydronephrosis is never observed in male homozygotes fed the normal Mg2+ diet or in wild-type controls fed on either diet
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• on a low Mg2+ diet, the ureter proximal to the cyst is slender and filled with amorphous eosinophilic material, suggesting a stenosis or obstruction at the pyelo-ureteral junction and absence of urinary flow (stasis)
• however, no obvious anatomical obstructions are identified
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| N |
• homozygotes are behaviorally normal with no evidence of ataxia or abnormal locomotor coordination and show normal food and water intake on both a normal and a low Mg2+ diet relative to wild-type controls
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• on a low Mg2+ diet, 10% of male homozygotes show a severe increase in the size of the left kidney due to hydronephrosis
• kidney volume is 6- to 8-fold larger than the other kidney in the same mouse and results in severe organ rearrangement in the peritoneal cavity
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• serum magnesium levels are decreased to the same extent as in single Slc41a3 homozygotes
• however, no differences in serum calcium, sodium, and potassium levels and their excretion via urine are normal
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 05/07/2024 MGI 6.23 |
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