Phenotypes associated with this allele

• Allele Symbol: Slc10a2^tm1Pda
• Allele Name: targeted mutation 1, Paul A Dawson
• Allele ID: MGI:2676307
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc10a2^tm1Pda/Slc10a2^tm1Pda	either: (involves: 129P2/OlaHsd * 129S6/SvEv) or (involves: 129P2/OlaHsd * C57BL/6J)	MGI:2676318
hm2	Slc10a2^tm1Pda/Slc10a2^tm1Pda	either: B6.129P2-Slc10a2^tm1Pda or (involves: 129P2/OlaHsd * C57BL/6J)	MGI:3790669

Genotype
MGI:2676318

hm1

• Allelic Composition: Slc10a2^tm1Pda/Slc10a2^tm1Pda
• Genetic Background: either: (involves: 129P2/OlaHsd * 129S6/SvEv) or (involves: 129P2/OlaHsd * C57BL/6J)

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

digestive/alimentary system

abnormal intestinal lipid absorption ( J:85312 )

• decrease in intestinal absorption of lipid from 98% to 95% in females and 93% in males

decreased intestinal cholesterol absorption ( J:85312 )

• 26% reduction in cholesterol absorption in males and 15% reduction in females

abnormal feces composition ( J:85312 )

• fecal bile acid excretion increased 24X in males and 11X in females

steatorrhea ( J:85312 )

• amount of fat excreted is small however

• 4X increase in total fat, fatty acid, and neutral sterol excretion

growth/size/body

decreased body weight ( J:85312 )

• small growth deficit in males but not females prior to weaning

• 20% decrease in body weight was transitory

homeostasis/metabolism

abnormal lipid homeostasis ( J:85312 )

abnormal intestinal lipid absorption ( J:85312 )

• decrease in intestinal absorption of lipid from 98% to 95% in females and 93% in males

decreased intestinal cholesterol absorption ( J:85312 )

• 26% reduction in cholesterol absorption in males and 15% reduction in females

steatorrhea ( J:85312 )

• 4X increase in total fat, fatty acid, and neutral sterol excretion

• amount of fat excreted is small however

increased circulating cholesterol level ( J:85312 )

• small but signifacant increase seen

abnormal bile salt homeostasis ( J:85312 )

• total bile acid pool decreased 83% in males and 80% in females

abnormal bile salt level ( J:85312 )

• bile acid pool composition is altered, taurocholate predominates

liver/biliary system

abnormal bile composition ( J:85312 )

• bile acid pool composition is altered, taurocholate predominates

abnormal liver physiology ( J:85312 )

• huge elevation in bile acid fractional turnover rate, 150% in males and 75% in females

• cholesteryl ester levels in liver are significantly lower

Genotype
MGI:3790669

hm2

• Allelic Composition: Slc10a2^tm1Pda/Slc10a2^tm1Pda
• Genetic Background: either: B6.129P2-Slc10a2^tm1Pda or (involves: 129P2/OlaHsd * C57BL/6J)

homeostasis/metabolism

abnormal bile salt homeostasis ( J:132778 )

• in everted gut sac experiments, mucosal-to-serosal transport of taurocholate is reduced, indicating impaired intestinal bile acid transport