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Phenotypes Associated with This Genotype
Genotype
MGI:5433858
Allelic
Composition
Slc4a4tm1.1Slin/Slc4a4tm1.1Slin
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc4a4tm1.1Slin mutation (0 available); any Slc4a4 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die before 23 days of age (J:186877)
• survival can be prolonged with alkali therapy but treatment with NaCl shortens survival time to 18 days (J:186877)
• die before 23 days of age (J:186877)
• survival can be prolonged with alkali therapy but treatment with NaCl shortens survival time to 18 days (J:186877)

growth/size/body
• slower growth compared to controls (J:186877)
• alkali treatment increases weight gain (J:186877)
• slower growth compared to controls (J:186877)
• alkali treatment increases weight gain (J:186877)

renal/urinary system
• severe proximal renal tubular acidosis (J:186877)
• severe proximal renal tubular acidosis (J:186877)
• hypercitraturia (J:186877)
• hypercitraturia (J:186877)
• high urine Na+ excretion (J:186877)
• high urine Na+ excretion (J:186877)
• flattening of epithelial cells (J:186877)
• flattening of epithelial cells (J:186877)
• in the cortex (J:186877)
• in the cortex (J:186877)
• decrease in the rate of HCO3- absorption in renal proximal tubules from alkali treated mice (J:186877)
• decrease in the rate of HCO3- absorption in renal proximal tubules from alkali treated mice (J:186877)

homeostasis/metabolism
• predominantly prerenal azotemia (J:186877)
• predominantly prerenal azotemia (J:186877)
• edematous changes in the cornea in mice receiving alkali therapy (J:186877)
• edematous changes in the cornea in mice receiving alkali therapy (J:186877)
• decrease in HCO3- concentration and increase in blood Cl- concentration (J:186877)
• metabolic acidosis (J:186877)
• decrease in HCO3- concentration and increase in blood Cl- concentration (J:186877)
• metabolic acidosis (J:186877)
• severe proximal renal tubular acidosis (J:186877)
• severe proximal renal tubular acidosis (J:186877)
• hypercitraturia (J:186877)
• hypercitraturia (J:186877)
• high urine Na+ excretion (J:186877)
• high urine Na+ excretion (J:186877)

digestive/alimentary system
• shrunken (J:186877)
• shrunken (J:186877)
• impacted (J:186877)
• impacted (J:186877)

hematopoietic system
• lower hemoglobin concentration (J:186877)
• lower hemoglobin concentration (J:186877)
• increased reticulocyte percentage (J:186877)
• increased reticulocyte percentage (J:186877)
• remarkably enlarged (J:186877)
• attenuated by alkali treatment (J:186877)
• remarkably enlarged (J:186877)
• attenuated by alkali treatment (J:186877)

muscle

vision/eye
• when survival is prolonged beyond 28 days (J:186877)
• results from edematous changes in the cornea (J:186877)
• when survival is prolonged beyond 28 days (J:186877)
• results from edematous changes in the cornea (J:186877)

skeleton
• severe bone dysplasia (J:186877)
• dysplasia is attenuated by alkali treatment (J:186877)
• severe bone dysplasia (J:186877)
• dysplasia is attenuated by alkali treatment (J:186877)
• thickened (J:186877)
• thickened (J:186877)
• decrease in the ratio of cortical to total cross-sectional area (J:186877)
• decrease in the ratio of cortical to total cross-sectional area (J:186877)

cardiovascular system
• poor perfusion of organs (J:186877)
• poor perfusion of organs (J:186877)

immune system
• remarkably enlarged (J:186877)
• attenuated by alkali treatment (J:186877)
• remarkably enlarged (J:186877)
• attenuated by alkali treatment (J:186877)

Mouse Models of Human Disease
OMIM ID Ref(s)
Renal Tubular Acidosis, Proximal 179830 J:186877


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory