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Phenotypes Associated with This Genotype
Genotype
MGI:3710674
Allelic
Composition
Slc4a4tm1Ges/Slc4a4tm1Ges
Genetic
Background
involves: 129S6/SvEvTac * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc4a4tm1Ges mutation (1 available); any Slc4a4 mutation (80 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Follicular organization of the spleen is disrupted in Slc4a4tm1Ges/Slc4a4tm1Ges mice

mortality/aging
• mice begin to die at P5 and no mice survive beyond P24

growth/size/body
• teeth are chalky white and chip easily
• at birth about 25% of mice are smaller than heterozygotes
• at birth about 25% of mice are smaller than heterozygotes
• at P15, mice appear emaciated
• 1.30 +/- 0.39% of body weight compared to 0.46 +/- 0.03% in wild-type controls

digestive/alimentary system
• P12-P21 mice have small, corkscrew ceca regardless of impaction status
• P12-P21 mice have small, corkscrew ceca regardless of impaction status
• mice that survive to at least P20 about 80% of mice have mild to severe intestinal impaction in the terminal ileum, cecum and colon
• however, mice that die much earlier have no bowel obstructions
• mice that survive to at least P20 have mild to severe intestinal impaction in the terminal ileum, cecum and colon
• however, mice that die much earlier have no bowel obstructions

homeostasis/metabolism
N
• plasma Na+ and K+ concentrations and urine osmolarity are relatively normal at P8 and no bicarbonaturia is observed
• altered expression of multiple proteins involved in proximal kidney tubule ammonia metabolism
• significantly reduced expression of phosphate-dependent glutaminase (PDG) and phosphoenolpyruvate carboxykinase, key enzymes in proximal tubule ammonia generation, with very weak PEPCK immunolabeling in proximal tubules
• significantly increased expression of glutamine synthetase, an enzyme that recycles intrarenal ammonia and regenerates glutamine, in proximal kidney tubule cells
• normal expression and localization of key proteins involved in collecting duct ammonia transport (rhesus B glycoprotein and rhesus C glycoprotein)
• significant suppression of ammonia excretion at P8, greater than that observed in heterozygous mutant mice
• however, ability to lower urinary pH is intact or even accentuated
• levels are sharply increased
• increase in amiloride-sensitive sodium absorption in the proximal and distal colons
• increase in maximal sodium absorption in response to cAMP stimulation in Ringer solution
• increase in bumetanide-sensitive sodium absorption
• however, there is no difference in SITS-sensitive or residual camp-stimulated sodium absorption and there is no difference in sodium absorption in chloride free solutions
• 5.3 +/- 0.5mM compared to 22.3 +/- 0.5mM in wild-type controls (J:120867)
• at P8, plasma bicarbonate levels average 10.3 +/- 0.6 mmol/l compared with 26.4 +/- 1.0 mmol/l in wild-type controls (J:279694)
• mild reduction (135.7 +/- 2.5mM compared to 143.0 +/- 1.7mM in controls)
• systemic acidosis of renal origin
• spontaneous metabolic acidosis at P8
• acidic urine pH at P8, with significantly lower pH than that observed in heterozygous mutant mice

hematopoietic system
• 1.30 +/- 0.39% of body weight compared to 0.46 +/- 0.03% in wild-type controls
• smaller and fewer megakaryocytes per field at x40 in the spleen (1.05 +/- 0.40 compared to 2.73 +/- 0.31 in wild-type controls)
• 0.30 +/- 0.02 compared to 0.38 +/- 0.01 in wild-type controls
• 7-fold increase in the percent of nucleated red blood cells
• decrease in the relative numbers of lymphocytes to 63.7 +/- 2.1 compared to 77.4 +/- 4.0 in wild-type controls and increase in myelocytes to 35.3 +/- 1.9 compared to 21.4 +/- 3.6 in controls in peripheral blood
• increase in red pulp
• follicular organization is severely disrupted
• increase in white pulp in which areas of lymphocytes predominant and smaller size of megakaryocytes are present

skeleton
• skulls are very thin and virtually transparent
• teeth are chalky white and chip easily

renal/urinary system
• significant suppression of ammonia excretion at P8, greater than that observed in heterozygous mutant mice
• however, ability to lower urinary pH is intact or even accentuated
• acidic urine pH at P8, with significantly lower pH than that observed in heterozygous mutant mice
• mild dilation of some collecting duct segments in the renal cortex at P8
• however, proximal kidney tubule morphology and overall renal anatomy appear normal

immune system
• 1.30 +/- 0.39% of body weight compared to 0.46 +/- 0.03% in wild-type controls
• decrease in the relative numbers of lymphocytes to 63.7 +/- 2.1 compared to 77.4 +/- 4.0 in wild-type controls and increase in myelocytes to 35.3 +/- 1.9 compared to 21.4 +/- 3.6 in controls in peripheral blood
• increase in red pulp
• follicular organization is severely disrupted
• increase in white pulp in which areas of lymphocytes predominant and smaller size of megakaryocytes are present

craniofacial
• skulls are very thin and virtually transparent
• teeth are chalky white and chip easily

integument

nervous system
N
• despite mental retardation in human patients mice have morphologically normal brains

vision/eye
N
• despite ocular defects in human patients mice have morphologically normal eyes


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory