Table 1.

Mouse models with Clcn3, Clcn4 or Clcn5 mutations.

	Clcn3−/− (3 independent lines)	Clcn3unc/unc	Clcn4−/−	Clcn3unc/unc; Clcn4−/−	Clcn3−/−; Clcn4−/−	Clcn5y/−	Clcn5y/unc
Ion transport by respective CLC	No current	No proton transport	No current	No proton transport/no current	No current	No current	No proton transport
Age at death	>1 year	Normal	Normal	5–10 weeks	Shortly after birth	Normal	Normal
Weight	↓	Normal	Normal	↓		Normal	Normal
Neuro-degeneration	Yes	No	No	Yes (severe)	Yes (very severe)
Retina degeneration	Yes	No	No	Yes
ClC-3 protein levels	No	Normal	Normal	Normal	No	Normal	Normal
ClC-4 protein levels	↓	Normal	No	No	No	Normal	Normal
PH of synaptic vesicles	Normal in young mice; ↑ in old mice	Normal	Normal	↑
Endosomal pH	↑ in hepatocytes; normal in neurons					↑	Normal
Endosomal chloride	↓ in hepatocytes; not tested in neurons
Others						Impaired renal endocytosis	Impaired renal endocytosis

See main text for references.