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Symbol
Name
ID
Clcn7
chloride channel, voltage-sensitive 7
MGI:1347048
Phenotype annotations related to cellular
*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
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)
Clcn7tm3.1Tjj/Clcn7tm3.1Tjj
Tg(APOE-cre)VITew/0  (conditional)

Contributing Projects:
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
The Jackson Laboratory