Mouse Genome Informatics
hm
    Slc26a3tm1Sole/Slc26a3tm1Sole
involves: 129S6/SvEvTac * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Colon abnormalities in Slc26a3tm1Sole/Slc26a3tm1Sole mice

mortality/aging
• numbers of homozygotes at weaning are less than expected, but Mendelian ratios are normal at E18.5
• non-Mendelian genotype distribution is observed in heterozygous matings (40% wild-type, 44% heterozygous, 16% homozygous vs 25:50:25 expected) at weaning
• in heterozygous x homozygous matings, at weaning, ratio of genotypes is about 75:25 hetero/homozygous offspring vs 50:50 expected)
• lifespan is 121.6 days, significantly shorter than control littermates

growth/size
• mice are smaller than age matched controls

homeostasis/metabolism
• 37 mg/dl in mutants vs 16 mg/dl in wild-type
• 2.3 ng/ml in mutants vs 0.45 mg/ml in wild-type
• lower in mutants (5.1 meq vs 5.6 in wild-type)
• levels are 153 mill-equivalents (meq) in wild-type vs 145 meq in mutants
• lower in mutants (102 meq vs 115 meq in wild-type)

digestive/alimentary system
• crypt orifices are conjoined rather than distinct as in wild-type; this is observed in proximal and distal colons, but not in ilea
• conjoined phenotype occurs at very top of crypt, closest portion to the lumen
• mice ofter display colon dilatation (distended proximal and distal colon) upon dissection
• occasionally observed in homozygotes
• in large intestine, apical chloride influx is reduced compared to wild-type
• colon has increased absorptive capacity for water, based on water content of stool in cecum compared to excreted stool
• surviving mutants exhibit diarrhea containing high chloride levels
• mutants' feces have higher chloride levels (28.4 ug/mg dry weight) and water content than controls (chloride=1.87 ug/mg dry weight)
• cecal contents contain more water than final stool

endocrine/exocrine glands
• crypt orifices are conjoined rather than distinct as in wild-type; this is observed in proximal and distal colons, but not in ilea
• conjoined phenotype occurs at very top of crypt, closest portion to the lumen

cellular
• zone of proliferating cells in mutant intestinal crypts is expanded compared to wild-type colons

Mouse Models of Human Disease
OMIM IDRef(s)
Diarrhea 1, Secretory Chloride, Congenital; DIAR1 214700 J:117587