Phenotypes associated with this allele

• Allele Symbol: Dbi^tm1Smdp
• Allele Name: targeted mutation 1, Susanne Mandrup
• Allele ID: MGI:4939621
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dbi^tm1Smdp/Dbi^tm1Smdp	B6JBomTac.129-Dbi^tm1Smdp	MGI:4939623
hm2	Dbi^tm1Smdp/Dbi^tm1Smdp	involves: 129S1/Sv * 129X1/SvJ	MGI:5538742

Genotype
MGI:4939623

hm1

• Allelic Composition: Dbi^tm1Smdp/Dbi^tm1Smdp
• Genetic Background: B6JBomTac.129-Dbi^tm1Smdp

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

mortality/aging

lethality at weaning, complete penetrance ( J:168744 )

• unless provided with easy access to water and soaked food

homeostasis/metabolism

abnormal cholesterol homeostasis ( J:168744 )

• hepatic cholesterol synthesis is reduced compared to in wild-type mice

increased circulating cholesterol level ( J:168744 )

• at P21

increased liver cholesterol level ( J:168744 )

• the level of hepatic cholesteryl ester is increased at P19 and P21 compared to in wild-type mice

• however, mice exhibit normal hepatic cholesteryl ester levels are normal by P23 and total hepatic cholesterol levels

increased liver triglyceride level ( J:168744 )

• 2-fold at P21 in the liver

• however, levels are normal at P23

growth/size/body

decreased body weight ( J:168744 )

• slightly at weaning

• however, mice recover weight by P31 when provided with easily accessible soaked food

postnatal growth retardation ( J:168744 )

• slightly at P21

• however, mice recover normal growth by P31 when provided with easily accessible soaked food

integument

abnormal coat/ hair morphology ( J:168744 )

• at P16

abnormal skin morphology ( J:168744 )

• at P16

behavior/neurological

weakness ( J:168744 )

• at weaning

liver/biliary system

increased liver cholesterol level ( J:168744 )

• the level of hepatic cholesteryl ester is increased at P19 and P21 compared to in wild-type mice

• however, mice exhibit normal hepatic cholesteryl ester levels are normal by P23 and total hepatic cholesterol levels

increased liver triglyceride level ( J:168744 )

• 2-fold at P21 in the liver

• however, levels are normal at P23

Genotype
MGI:5538742

hm2

• Allelic Composition: Dbi^tm1Smdp/Dbi^tm1Smdp
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

adipose tissue

abnormal white adipose tissue physiology ( J:204137 )

• elevated lypolysis in isolated inguinal WAT

• topical application of Vaseline reverses this increase

homeostasis/metabolism

increased liver cholesterol level ( J:204137 )

• greater accumulation of cholesteryl esters at P21

increased liver triglyceride level ( J:204137 )

• at P21

• accumulation is abolished by topical application of Vaseline

liver/biliary system

increased liver cholesterol level ( J:204137 )

• greater accumulation of cholesteryl esters at P21

increased liver triglyceride level ( J:204137 )

• at P21

• accumulation is abolished by topical application of Vaseline

abnormal liver physiology ( J:204137 )

• expression analysis in fostered pups indicates a defect in liver adaptation to weaning that is independent of maternal genotype

• application of Vaseline or latex to the mitigate the skin barrier defect almost completely rescues liver adaptation to weaning