Phenotypes associated with this allele

• Allele Symbol: Pctp^tm1Bor
• Allele Name: targeted mutation 1, Piet Borst
• Allele ID: MGI:2673156
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pctp^tm1Bor/Pctp^tm1Bor	B6.129P2-Pctp^tm1Bor	MGI:3695293
hm2	Pctp^tm1Bor/Pctp^tm1Bor	involves: 129P2/OlaHsd * C57BL/6J	MGI:3695291
hm3	Pctp^tm1Bor/Pctp^tm1Bor	involves: 129P2/OlaHsd * FVB	MGI:2673160
hm4	Pctp^tm1Bor/Pctp^tm1Bor	involves: 129P2/OlaHsd * FVB/NJ	MGI:3695292

Genotype
MGI:3695293

hm1

• Allelic Composition: Pctp^tm1Bor/Pctp^tm1Bor
• Genetic Background: B6.129P2-Pctp^tm1Bor

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

immune system

abnormal macrophage physiology ( J:115284 )

• macrophages loaded with cholesteryl esters show impaired apoAI-mediated efflux of phospholipids and cholesterol compared to wild-type macrophages

increased macrophage apoptosis ( J:115284 )

• macrophages loaded with free (unesterified) cholesterol (FC) show significantly more apoptotic cell death and total cell death compared to FC-loaded wild-type macrophages

cellular

increased macrophage apoptosis ( J:115284 )

• macrophages loaded with free (unesterified) cholesterol (FC) show significantly more apoptotic cell death and total cell death compared to FC-loaded wild-type macrophages

hematopoietic system

abnormal macrophage physiology ( J:115284 )

• macrophages loaded with cholesteryl esters show impaired apoAI-mediated efflux of phospholipids and cholesterol compared to wild-type macrophages

increased macrophage apoptosis ( J:115284 )

• macrophages loaded with free (unesterified) cholesterol (FC) show significantly more apoptotic cell death and total cell death compared to FC-loaded wild-type macrophages

Genotype
MGI:3695291

hm2

• Allelic Composition: Pctp^tm1Bor/Pctp^tm1Bor
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

liver/biliary system

gallstones ( J:115285 )

• Background Sensitivity: on a lithogenic diet, abundant liquid and solid cholesterol crystals that precede formation of macroscopic cholesterol gallstones are observed after 9 days

abnormal bile canaliculus morphology ( J:115285 )

• in mutant livers, bile canaliculi show extensive branching at membrane surface

abnormal gallbladder physiology ( J:115285 )

• Background Sensitivity: occlusion of gall bladder with mucin occurs at 7 days on a lithogenic diet compared to 18 hours on the FVB/NJ background

abnormal bile composition ( J:115285 )

• Background Sensitivity: phospholipids in bile of mice on a chow diet are 1.3 fold higher than littermates

• Background Sensitivity: on a lithogenic diet, after 7 days, mice have 1.3 fold lower phospholipid levels in bile

• Background Sensitivity: on a lithogenic diet, after 7 days, mice have 1.3 fold lower biliary cholesterol levels in bile compared to wild-type littermates

homeostasis/metabolism

abnormal bile salt level ( J:115285 )

• on a lithogenic diet, TUDC concentration increases in mutants and controls, but remain higher in mutants; TC remains unchanged in mutants but increases in wild-type

• Background Sensitivity: relative concentration of tauromuricholate (TMC) is reduced and tauroursdeoxycholate (TUDC) and taurocholate (TC) concentrations are increased compared to control

• Background Sensitivity: bile salt concentrations are 1.3 fold lower than controls on lithogenic diets compared to mutants on the FVB/NJ background

abnormal phospholipid level ( J:115285 )

• phospholipids in bile of mice on a chow diet are 1.3 fold higher than littermates

• on a lithogenic diet, after 7 days, mice have 1.3 fold lower phospholipid levels in bile

Genotype
MGI:2673160

hm3

• Allelic Composition: Pctp^tm1Bor/Pctp^tm1Bor
• Genetic Background: involves: 129P2/OlaHsd * FVB

normal phenotype

no abnormal phenotype detected ( J:57946 )

• mice do not exhibit defects in lipid metabolism, liver function or lung surfactant production

Genotype
MGI:3695292

hm4

• Allelic Composition: Pctp^tm1Bor/Pctp^tm1Bor
• Genetic Background: involves: 129P2/OlaHsd * FVB/NJ

liver/biliary system

abnormal bile canaliculus morphology ( J:115285 )

• in mutant livers, bile canaliculi show extensive branching at membrane surface

• bile canaliculi and junctional complexes appear more tortuous

abnormal gallbladder physiology ( J:115285 )

• Background Sensitivity: occlusion of gall bladder with mucin occurs at 18 hours on a lithogenic diet

• Background Sensitivity: occlusion occurs much more quickly than on the C57BL/6J background

abnormal bile secretion ( J:115285 )

• bile flow rate is reduced by ~35% after 30 minutes in mutants on a regular chow diet

homeostasis/metabolism

abnormal bile salt level ( J:115285 )

• Background Sensitivity: bile salt concentrations are 4.3 fold higher than controls on regular chow diets

• Background Sensitivity: there is marked increase in bile salt secretion on chow diet

• Background Sensitivity: on lithogenic diet, concentration decreases; in wild-type, concentrations increase such that both genotypes have similar bile salt concentrations

• Background Sensitivity: on a chow diet, TC concentration is higher than controls, while other bile salt concentrations are reduced; on a lithogenic diet, percentage of TUDC is higher in mutants, but other types are similar in both mutants and controls

decreased cholesterol level ( J:115285 )

• Background Sensitivity: on a lithogenic diet, biliary cholesterol levels decrease, but levels increase in wild-type

increased cholesterol level ( J:115285 )

• Background Sensitivity: in chow-fed mice, biliary cholesterol levels are 5.9 fold higher than in controls