Table 2.

Mouse models with Clcn6 or Clcn7 mutations.

	Clcn6−/−	Clcn7−/−	Clcn7unc/unc	Clcn7td/td	Clcn7G213R/G213R	Clcn7F316L/F316L	Clcn7+/Y713A
Transporter properties	No ClC-6 protein	No ClC-7 protein	No proton transport, no rectification, instantaneous currents	Only residual currents	Mis-localization	Reduced current	More currents at cytosolic-positive potential
Age at death	Normal	4-6 weeks	Up to 5 weeks	Up to 6 weeks	Up to 30 days	Up to 30 days	18 weeks (heterozygous)
Fur color	Normal	Gray	Normal	Normal			Albinism
Bone mineralization		↑	↑	↑	↑	↑	Normal
Storage material	Yes	Yes	Yes	Yes	Yes		Yes
Neuro-degeneration	No	Yes	Yes	Yes	Yes		Yes
Retina degeneration		↑	↑	No
Autophagic accumulation		↑	↑	No	↑
Lysosomal pH	Normal	Normal	Normal	Normal	↑		↓
Lysosomal chloride		↓	↓	↓
Others	Reduced pain sensitivity, moderate behavioral abnormalities	Splenomegaly			Fibrosis in lung, kidney, muscle		Intracellular vacuoles

See main text for references.