Symbol Name ID |
Clcn7
chloride channel, voltage-sensitive 7 MGI:1347048 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Elevated serum acid phosphatase |
Disease(s) Associated with CLCN7 | |
autosomal dominant osteopetrosis 2 |
Mouse Phenotypes | cellular phenotype |
abnormal lysosome morphology |
accumulation of giant lysosomes in kidney/renal tubule cells |
abnormal autophagy |
enhanced autophagy |
abnormal lysosome physiology |
lysosomal protein accumulation |
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Availability | Mouse Genotype | |||||||
Clcn7tm1.1Lex/Clcn7tm1.1Lex | ||||||||
Clcn7tm2Tjj/Clcn7tm2Tjj | ||||||||
Clcn7tm4.1Tjj/Clcn7tm4.1Tjj | ||||||||
Clcn7tm5.1Tjj/Clcn7tm5.1Tjj | * | |||||||
Clcn7tm3.1Tjj/Clcn7tm3.1Tjj Emx1tm1.1(cre)Ito/Emx1+ (conditional) |
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Clcn7tm3.1Tjj/Clcn7tm3.1Tjj Tg(APOE-cre)VITew/0 (conditional) |
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 04/23/2024 MGI 6.23 |
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