Mouse Genome Informatics
hm
    Slc4a4tm1.1Slin/Slc4a4tm1.1Slin
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• die before 23 days of age
• survival can be prolonged with alkali therapy but treatment with NaCl shortens survival time to 18 days

growth/size
• slower growth compared to controls
• alkali treatment increases weight gain

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

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

digestive/alimentary system

hematopoietic system
• lower hemoglobin concentration
• increased reticulocyte percentage
• remarkably enlarged
• attenuated by alkali treatment

muscle

vision/eye
• when survival is prolonged beyond 28 days
• results from edematous changes in the cornea

skeleton
• severe bone dysplasia
• dysplasia is attenuated by alkali treatment
• decrease in the ratio of cortical to total cross-sectional area

cardiovascular system
• poor perfusion of organs

immune system
• remarkably enlarged
• attenuated by alkali treatment

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