Mouse Genome Informatics
hm
    Slc4a4tm1Ges/Slc4a4tm1Ges
involves: 129S6/SvEvTac * Black Swiss
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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

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
• 5.3+/-0.5mM compared to 22.3+/-0.5mM in controls
• 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
• mild reduction (135.7+/-2.5mM compared to 143.0+/-1.7mM in controls)
• systemic acidosis of renal origin

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

skeleton
• skills are very thin and virtually transparent

growth/size/body
• teeth are chalky white and chip easily
• at birth about 25% of mice are smaller than heterozygotes
• at P15, mice appear emaciated
• at birth about 25% of mice are smaller than heterozygotes

nervous system
N
• despite mental retardation in human patients mice have morphologically normal brains (J:120867)

vision/eye
N
• despite ocular defects in human patients mice have morphologically normal eyes (J:120867)

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

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

integument

Mouse Models of Human Disease
OMIM IDRef(s)
Solute Carrier Family 4 (anion Exchanger), Member 1; SLC4A1 109270 J:120867