Table 2.
Gene | Site | Method* | Major phenotypes | Reference |
---|---|---|---|---|
Slc4a4 | Exon 9 | H | Growth retardation and death before weaning Metabolic acidosis Abnormal dentition and intestinal obstruction Low plasma Na+, hyperaldosteronism, splenomegaly No depolarization-induced alkalinization in neurons |
(105, 170, 310) |
W516X (exon 11) | H | Growth retardation and death before weaning Proximal renal tubular acidosis Ocular abnormalities Anemia, volume depletion, prerenal azotemia |
(199) | |
Slc4a5 | Exon 15 | R | Reduced intracerebral volume and pressure Remodeling choroid plexus epithelia |
(152) |
Exon 7 | H | Hypertension Metabolic acidosis Hyporeninemic hypoadosteronism |
(119) | |
Slc4a7 | Exon 5 | H | Blindness and auditory impairment | (36, 202) |
Exon 1 | R | Inhibition of NO-mediated vasorelaxation Resistant to hypertension development |
(35) | |
Slc4a8 | Exon 12 | H | No thiazide-sensitive Na,Cl transport in collecting ducts Reduced spontaneous glutamate release in CA1 pyramidal layer Increased seizure threshold |
(187, 296) |
Slc4a10 | Exon 12 | H | Reduced ventricular volume and neuronal excitability Altered expression of other transporters in choroid plexus |
(82, 143) |
H: homologous recombination, R: retroviral integration.