Table 3. Human and Mouse Slc4 phenotypes.

Gene	System	Human Pathologies	Refs	KO Mouse Pathologies	Refs
SLC4A1	Circulatory	Hemolytic anemias including hereditary spherocytosis (HS), Southeast Asian ovalocytosis (SAO) (−)	(Imamura et al., 1984; Jarolim et al., 1991; Williamson and Toye, 2008)	Haemolytic anaemia	(Inaba et al., 1996; Peters et al., 1996; Southgate et al., 1996)
	Reproductive	Preeclampsia	(Morrison et al., 2010)
	Urinary	Distal renal tubular acidosis (dRTA) (−)	(Bruce et al., 1997; Shayakul and Alper, 2004)	Nephrocalcinosis associated with hypercalciuria, hyperphosphaturia , and hypocitraturia.	(Stehberger et al., 2007)
		Calcium oxalate nephrolithiasis (+)	(Baggio et al., 1993; Oehlschlager et al., 2011)
SLC4A2	Lower digestive	Primary biliary cirrhosis (−)	(Aiba et al., 2011; Banales et al., 2012; Juran et al., 2009; Medina, 2011; Poupon et al., 2008)	Achlorhydria; Changed immune function	(Gawenis et al., 2004; Salas et al., 2008)
SLC4A3	Central nervous	Epilepsy (−)	(Sander et al., 2002)	Inner retinal defects	(Alvarez et al., 2007; Hentschke et al., 2006)
SLC4A4	Central nervous	Calcification of basal ganglia (−)	(Damkier et al.)	The glycolytic response to K(+) was absent in astrocytes from NBCe1 null mice.	(Ruminot et al., 2011)
		Epilepsy (−)	(Banales et al., 2012; Suzuki et al., 2010)
		Mental retardation (−)	(Deda et al., 2001; Demirci et al., 2006; Horita et al., 2005; Igarashi et al., 1999; Igarashi et al., 2001; Igarashi et al., 2002; Lo et al., 2011b; Suzuki et al., 2010a)
		Migraine (−)	(Demirci et al., 2006; Igarashi et al., 2003; Suzuki et al., 2010a)
		Nausea (−)	(Suzuki et al., 2010)
	Special Senses	Band keratopathy (−)	(Deda et al., 2001; Demirci et al., 2006; Dinour et al., 2004; Horita et al., 2005; Igarashi et al., 1999; Igarashi et al., 2001; Igarashi et al., 2003; Igarashi et al., 2002; Inatomi et al., 2004; Lo et al., 2011b; Suzuki et al., 2008; Suzuki et al., 2010a)
		Cataracts (−)	(Deda et al., 2001; Demirci et al., 2006; Dinour et al., 2004; Horita et al., 2005; Igarashi et al., 1999; Igarashi et al., 2001; Igarashi et al., 2003; Igarashi et al., 2002; Inatomi et al., 2004; Lo et al., 2011a; Suzuki et al., 2008; Suzuki et al., 2010)
		Glaucoma (−)	(Deda et al., 2001; Demirci et al., 2006; Dinour et al., 2004; Horita et al., 2005; Igarashi et al., 1999; Igarashi et al., 2001; Igarashi et al., 2003; Igarashi et al., 2002; Inatomi et al., 2004; Lo et al., 2011b; Suzuki et al., 2010)
	Circulatory	Heart failure (+)	(Khandoudi et al., 2001)	Hyperal-dosteronism.	(Gawenis et al., 2007)
	Musculoskeletal	Growth retardation (−)	(Deda et al., 2001; Demirci et al., 2006; Dinour et al., 2004; Horita et al., 2005; Igarashi et al., 1999; Igarashi et al., 2001; Igarashi et al., 2003; Igarashi et al., 2002; Inatomi et al., 2004; Lo et al., 2011b; Suzuki et al., 2008; Suzuki et al., 2010)	Runting.	(Gawenis et al., 2007)
		Hypokalemic periodic paralysis (−)	(Deda et al., 2001)
	Digestive	Poor dentition (−)	(Demirci et al., 2006; Dinour et al., 2004; Inatomi et al., 2004)	Altered dentition. Hypomineralized dentition.	(Gawenis et al., 2007) ,(Lacruz et al., 2010)
		Ileal obstruction (SNP)	(Dorfman et al., 2009)	Splenomegaly.	(Gawenis et al., 2007)
		Signs of pancreatitis (−)	(Igarashi et al., 1999; Inatomi et al., 2004; Suzuki et al., 2010a)	Intestinal obstruction.	(Gawenis et al., 2007)
	Urinary	Whole body acidosis (−): Proximal Renal Tubular Acidosis [pRTA]	(Deda et al., 2001; Demirci et al., 2006; Dinour et al.,2004; Horita et al., 2005; Igarashi et al., 1999; Igarashi et al., 2001; Igarashi et al., 2003; Igarashi et al., 2002; Inatomi et al., 2004; Lo et al., 2011b; Suzuki et al., 2008; Suzuki et al., 2010a)	Severe metabolic acidosis.	(Gawenis et al., 2007)
				Death before weaning.	(Gawenis et al., 2007)
SLC4A5	Circulation	Hypertension (SNP)	(Barkley et al., 2004; Hunt et al., 2006; Lynn et al., 2009; Stutz et al., 2009; Taylor et al., 2009; Taylor et al., 2011)	Arterial hypertension.	(Groger et al., 2012)
		Peripheral Artery Disease (SNP)	(Kardia et al., 2008)
	Urinary			Renal metabolic acidosis.	(Groger et al., 2012)
	Central nervous			Severe neurologic impairment.	(Kao et al., 2011)
SLC4A7	Central nervous	Drug addiction (SNP)	(Ishiguro et al., 2007)
	Circulation	Hypertension (SNP)	(Ehret et al., 2011)	NO-mediated vasorelaxation, smooth muscle Ca2+ sensitivity, and hypertension development were inhibited.	(Boedtkjer et al., 2011)
	Reproductive	Breast cancer (SNP)	(Ahmed et al., 2009; Antoniou et al., 2010; Campa et al., 2011; Chen et al., 2007; Han et al., 2011; Long et al., 2010; Milne et al., 2010; Mulligan et al., 2011; Peng et al., 2011; Sueta et al., 2011)
	Special senses			Blindness and auditory impairment.	(Bok et al., 2003)
SLC4A8	No reports			Thiazide-sensitive NaCl transport in the CCD (cortical collecting duct) was abolished.	(Leviel et al., 2010)
SLC4A9	No reports
SLC4A10	Central nervous	Autism (GD)	(Krepischi et al., 2010; Sebat et al., 2007)	Deleterious to choroid plexus epithelium. Small brain ventricles and reduced neuronal excitability.	(Damkier and Praetorius, 2012)
		Epilepsy (GD)	(Krepischi et al., 2010)
		Mental retardation (GD)	(Krepischi et al., 2010)		(Jacobs et al., 2008)
SLC4A11	Special senses	Corneal dystrophies (−): Congenital Hereditary Endothelial Dystrophy [CHED2], Harboyan syndrome (Corneal Dystrophy and Perceptive Deafness [CDPD], Fuchs Endothelial Corneal Dystrophy [FECD4]	(Aldahmesh et al., 2009; Aldave et al., 2007; Chai et al., 2010; Desir et al., 2007; Hemadevi et al., 2008; Jiao et al., 2007; Kumar et al., 2007; Mehta et al., 2010; Ramprasad et al., 2007; Riazuddin et al., 2010; Shah et al., 2008; Sultana et al., 2007; Vithana et al., 2006; Vithana et al., 2008)	Auditory brain response and vestibular evoked potential waveforms were significantly abnormal. Malfunctions in ion homeostasis in the corneal stroma. Corneal endothelial dystrophy.	(Lopez et al., 2009) (Groger et al., 2010a) (Groger et al., 2010a)
		Hearing loss (−): Harboyan syndrome also known as Corneal Dystrophy and Perceptive Deafness [CDPD]	(Desir et al., 2007)	Impaired hearing.	(Groger et al., 2010a)
	Urinary			Polyuria, loss of NaCl, and hypo-osmolarity of the Urine	(Groger et al., 2010a)

(−) Primary or secondary to gene dysfunction (+) Exacerbated by gene hyperfunction

(SNP) Genetically associated with polymorphism, but direction of effect upon gene function unknown

(GD) Genetically associated with deletions and/or translocations at the gene locus, but direction of effect upon gene function unknown