Analysis Tools|
Allele Symbol Allele Name Allele ID |
Clcn7tm3.1Tjj targeted mutation 3.1, Thomas J Jentsch MGI:4413670 |
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| Summary |
3 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• degradation of the endocytosed protein in proximal tubule cells of the kidneys is disrupted compared to in wild-type mice
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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 |
• unlike Clcn7tm2Tjj homozygotes, mice have a normal lifespan
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• at 20 weeks in the cerebral cortex
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• at 1.5 years of age, the cortex and hippocampus are almost completely degenerated unlike in wild-type mice
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• at 20 weeks, the dentate gyrus exhibits conspicuous degeneration unlike in wild-type mice
• hippocampal structures are no longer detected by 1.5 years of age
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• mice exhibit severe neuronal cell loss as early as 30 days after birth
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• the cerebral cortex is reduced at 4 to 5 months of age
• at 1.5 years of age, the cortex and hippocampus are almost completely degenerated unlike in wild-type mice
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• nearly all cortical neurons are lost by 1 year of age
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• at 20 weeks in the cerebral cortex
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• at 1.5 years of age, the cortex and hippocampus are almost completely degenerated unlike in wild-type mice
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• progressive with severe neuronal cell loss as early as 30 days after birth
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• at 4 to 5 months of age
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• mice exhibit a lysosomal storage phenotype in the forebrain with altered Lamp-1 distribution compared to in wild-type mice
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| N |
• unlike Clcn7tm2Tjj homozygotes, mice exhibit normal bone density
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| N |
• unlike Clcn7tm2Tjj homozygotes, mice exhibit normal growth
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• at 20 weeks in the cerebral cortex
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• at 20 weeks in the cerebral cortex
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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 11/12/2024 MGI 6.24 |
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