Phenotypes associated with this allele

• Allele Symbol: Slc26a3^tm1Sole
• Allele Name: targeted mutation 1, Manoocher Soleimani
• Allele ID: MGI:3697318
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc26a3^tm1Sole/Slc26a3^tm1Sole	involves: 129S6/SvEvTac	MGI:3839148
hm2	Slc26a3^tm1Sole/Slc26a3^tm1Sole	involves: 129S6/SvEvTac * C57BL/6	MGI:3697730

Genotype
MGI:3839148

hm1

• Allelic Composition: Slc26a3^tm1Sole/Slc26a3^tm1Sole
• Genetic Background: involves: 129S6/SvEvTac

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

digestive/alimentary system

abnormal digestive system physiology ( J:121543 )

• rates of HCO3- influx during Cl- removal and HCO3- efflux during Cl- replacement in villi epithelia are decreased by 20% to 40% compared to in wild-type cells

• baseline pH in villous epithalia is increased compared to in wild-type cells

Genotype
MGI:3697730

hm2

• Allelic Composition: Slc26a3^tm1Sole/Slc26a3^tm1Sole
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Colon abnormalities in Slc26a3^tm1Sole/Slc26a3^tm1Sole mice

mortality/aging

premature death ( J:117587 )

• lifespan is 121.6 days, significantly shorter than control littermates

postnatal lethality, incomplete penetrance ( J:117587 )

• 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)

growth/size/body

decreased body weight ( J:117587 )

• mice are smaller than age matched controls

homeostasis/metabolism

increased blood urea nitrogen level ( J:117587 )

• 37 mg/dl in mutants vs 16 mg/dl in wild-type

increased circulating aldosterone level ( J:117587 )

• 2.3 ng/ml in mutants vs 0.45 mg/ml in wild-type

decreased circulating potassium level ( J:117587 )

• lower in mutants (5.1 meq vs 5.6 in wild-type)

decreased circulating sodium level ( J:117587 )

• levels are 153 mill-equivalents (meq) in wild-type vs 145 meq in mutants

decreased circulating chloride level ( J:117587 )

• lower in mutants (102 meq vs 115 meq in wild-type)

digestive/alimentary system

abnormal feces composition ( J:117587 )

• 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

increased feces water content ( J:117587 )

diarrhea ( J:117587 )

• surviving mutants exhibit diarrhea containing high chloride levels

abnormal large intestine crypts of Lieberkuhn morphology ( J:117587 )

• 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

abnormal colon morphology ( J:117587 )

• mice ofter display colon dilatation (distended proximal and distal colon) upon dissection

rectal prolapse ( J:117587 )

• occasionally observed in homozygotes

abnormal digestive system physiology ( J:117587 )

• 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

endocrine/exocrine glands

abnormal large intestine crypts of Lieberkuhn morphology ( J:117587 )

• 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

increased cell proliferation ( J:117587 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital secretory chloride diarrhea 1		DOID:0060296	OMIM:214700	J:117587