Phenotypes Associated with This Genotype

Genotype
MGI:3691620

• Allelic Composition: Ldlr^tm1Her/Ldlr^tm1Her
• Genetic Background: involves: 129S7/SvEvBrd

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

homeostasis/metabolism

abnormal circulating cholesterol level ( J:48202 )

• circulating VLDL/LDL cholesterol levels are increased compared to in Apobec1^tm1Chan homozygotes and wild-type mice

abnormal circulating LDL cholesterol level ( J:84694 )

• LDL clearance is slowed

increased circulating cholesterol level ( J:48202 , J:84694 , J:228420 )

• when fed a chow diet or Western-type diet for 2 and 4 weeks, mice exhibit increased serum cholesterol levels compared to in Apobec1^tm1Chan homozygotes and wild-type mice (J:48202)

• plasma cholesterol level is 196mg/dl on a normal diet (J:84694)

• levels are higher than those exhibited by in transgenic Tg(Alb-MYLIP*)1Pton mice after 30 weeks on Western diet (J:228420)

• increased plasma cholesterol levels after 20 weeks on Western diet (J:228420)

increased circulating LDL cholesterol level ( J:84694 , J:114949 , J:169834 )

• on a chow diet, plasma LDL levels were higher than both those of wild-type mice and Ldlrap1^tm1Her homozygous mutant mice (J:84694)

• plasma LDL levels become further elevated on high cholesterol diets (J:84694)

• male mice have a marked increase in plasma LDL cholesterol compared to wild-type (J:114949)

• in wild-type mice parabiosed with Ldlr-null mice (resulting in shared circulation), plasma total cholesterol levels did not increase significantly over pre-surgery levels (J:114949)

• plasma levels are increased 2.5 fold relative to controls (J:169834)

increased circulating triglyceride level ( J:48202 )

• when fed a chow diet or a Western-type diet for 2 and 4 weeks, mice exhibit increased serum triglyceride levels compared to in Apobec1^tm1Chan homozygotes and wild-type mice

cardiovascular system

atherosclerotic lesions ( J:228420 )

• mice develop atherosclerotic lesions after 20 weeks on Western diet

• total lesion area is larger when compared to lesion area in transgenic Tg(Alb-MYLIP*)1Pton mice after 30 weeks on Western diet

increased susceptibility to atherosclerosis ( J:228420 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
familial hypercholesterolemia		DOID:13810	OMIM:143890	J:84694