Table 2.
Summary of the phenotype of relevant knockout mice.
| Gene name | Expression pattern | Phenotype | References |
|---|---|---|---|
| TonEBP (NFAT5, NFATL1, OREBP) | Thymus, placenta, brain, spinal cord, heart, liver > salivary gland, lung, kidney, gut, bladder | Show perinatal lethality; the majority of the few survivors died around P10; display progressive growth retardation; renal atrophy; exhibit abnormal heart development; increased severity of neuronal cell death in ischemic injury; lymphoid hypocellularity and impaired antigen-specific antibody responses; reduced cell proliferation | Trama et al., 2000; Maouyo et al., 2002; Go et al., 2004; Lopez-Rodriguez et al., 2004; Mak et al., 2011, 2012 |
| SMIT1 (SLC5A3) | Kidney > brain | Die shortly after birth probably because of abnormal respiratory rhythmogenesis or severe defects in the pheripheral nerve; no decrease in phophatidylinositol in spite of severe myo-inositol deficiency; lethality can be rescued by supplement of exogenous myo-inositol; shows a lithium-like phenotype but has no effect on lithium-sensitive behavior | Kwon et al., 1992; Berry et al., 2003; Chau et al., 2005; Shaldubina et al., 2006; Bersudsky et al., 2008 |
| Aldose reductase (hAKR1B1, mAkr1b3, EC1.1.1.21) | Testis, heart, retina, len, sciatic nerve, kidney, skeletal muscle, small intestines, thymus, spleen, placenta > brain, lung, pancreas > liver | Viable; fertile; develop polyuria and polydipsia; exhibit a partial defective urine-concentrating ability and a defect in divalent cation homeostasis; leads to nephrogenic diabetes insipidus; ameliorated diabetes-induced renal hypertrophy and nerve degeneration; improves cerebral or retinal ischemic injuries | Nishimura et al., 1988; Cao et al., 1998; Aida et al., 2000; Ho et al., 2000, 2006; Yang et al., 2006; Lo et al., 2007; Zhou et al., 2014 |
| BGT1 (mGAT2, SLC6A12) | Liver > kidney, brain | Viable; fertile; appear to tolerate salt drinking (concentrate urine normally); no decreased susceptibility in electrical and chemical induced seizure | Lehre et al., 2011; Zhou et al., 2012a |
| TAUT (SLC6A6) | Kidney, brain, retina, small intestine, spleen, heart, skeletal muscle > liver, epididymis, pancreas (islet) | Viable; reduced fertility; reduced weight; decreased taurine levels in a variety of tissues; impaired ability to increase water excretion and to lower urine osmolarity; vision loss due to severe retinal degeneration; show electromyographic abnormalities and reduced total exercise capacity; leads to cardiomyopathy with cardiac atrophy; higher sensitivity to ultraviolet B radiation-induced immunosuppression; loss of ability to self-heal malaria; develop chronic liver disease in old age; reduced ability to develop long-lasting enhancement of synaptic transmission in the striatum; reduced apoptosis of erythrocytes during exposure to osmotic shock or oxidative stress | Liu et al., 1992; Smith et al., 1992; Uchida et al., 1992; Ito et al., 2008; Delic et al., 2010; Zhou et al., 2014 |