Phenotypes associated with this allele

• Allele Symbol: Ldlr⁺
• Allele Name: wild type
• Allele ID: MGI:2431204
• Summary: 11 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Ldlr^tm1Her/Ldlr^+	B6.129S7-Ldlr^tm1Her	MGI:4443062
ht2	Ldlr^Hlb301/Ldlr^+	C57BL/6J-Ldlr^Hlb301/J	MGI:3622102
ht3	Ldlr^tm1(LDLR)Mae/Ldlr^+	involves: 129S6/SvEvTac * C57BL/6	MGI:3695716
ht4	Ldlr^tm1Her/Ldlr^+	involves: 129S7/SvEvBrd * C57BL/6 * DBA/2	MGI:3798392
ht5	Ldlr^Rgsc366/Ldlr^+	involves: C57BL/6JJcl * DBA/2JJcl	MGI:3811878
cx6	Ldlr^tm1Her/Ldlr^+ Lep^ob/Lep^ob	B6.Cg-Lep^ob Ldlr^tm1Her	MGI:3622658
cx7	Apoe^tm1(APOE*2)Mae/Apoe^tm1(APOE*2)Mae Ldlr^tm1(LDLR)Mae/Ldlr^+	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6	MGI:3695717
cx8	Apoe^tm2(APOE*3)Mae/Apoe^tm2(APOE*3)Mae Ldlr^tm1(LDLR)Mae/Ldlr^+	involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6	MGI:4355226
cx9	Apoe^tm3(APOE*4)Mae/Apoe^tm3(APOE*4)Mae Ldlr^tm1(LDLR)Mae/Ldlr^+	involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6	MGI:4355231
cx10	Ldlr^tm1Her/Ldlr^+ Tg(H2-K-AKR1B1)1Tj/0	involves: 129S7/SvEvBrd * C57BL/6 * DBA/2	MGI:3798393
cx11	Cx3cl1^tm1Sgs/Cx3cl1^tm1Sgs Ldlr^tm1Her/Ldlr^+	involves: B6.129S4-Cx3cl1^tm1Sgs * B6.129S7-Ldlr^tm1Her/J	MGI:3527876

Genotype
MGI:4443062

ht1

• Allelic Composition: Ldlr^tm1Her/Ldlr⁺
• Genetic Background: B6.129S7-Ldlr^tm1Her

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

homeostasis/metabolism

increased circulating cholesterol level ( J:72027 )

• seen at 3-4 months of age

increased circulating triglyceride level ( J:72027 )

• seen at 3-4 months of age

Genotype
MGI:3622102

ht2

• Allelic Composition: Ldlr^Hlb301/Ldlr⁺
• Genetic Background: C57BL/6J-Ldlr^Hlb301/J

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:82961 )

N • mice with this mutation do not develop xanthomas when fed a high fat, high cholesterol diet

N • mice with this mutation do not become obese when fed a high fat, high cholesterol diet

increased circulating cholesterol level ( J:82961 )

• on a chow diet, 14 week old heterozygous mutant female, but not male, mice exhibit significantly (p<=0.05) greater elevation of total serum cholesterol than do C57BL/6J controls

• after 5 weeks on a high fat, high cholesterol diet, 14 week old heterozygous mutant mice exhibit significantly (p<=0.05) greater elevation of total serum cholesterol than do C57BL/6J control mice; heterozygous G3 female mice (N=4) exhibited, on average, 4.5-fold baseline levels of total cholesterol, versus 2.5-fold baseline for controls

increased circulating HDL cholesterol level ( J:82961 )

• on a chow diet, 14 week old heterozygous mutant female, but not male, mice exhibit significantly (p<=0.05) greater elevation of HDL cholesterol than do C57BL/6J controls

• after 5 weeks on a high fat, high cholesterol diet, 14 week old heterozygous mutant mice exhibit significantly (p<=0.05) greater elevation of HDL cholesterol than do C57BL/6J control mice

cardiovascular system

increased susceptibility to atherosclerosis ( J:82961 )

• all mice with this mutation fed an atherogenic diet for 5 weeks develop severe aortic atherosclerosis with collagen deposition, atherosclerosis of the pulmonary arteries, and incipient lesions with foam cell accumulation in the coronary arteries

hematopoietic system

increased macrophage derived foam cell number ( J:82961 )

• lesions with foam cell accumulations are seen in coronary arteries

immune system

increased macrophage derived foam cell number ( J:82961 )

• lesions with foam cell accumulations are seen in coronary arteries

cellular

increased macrophage derived foam cell number ( J:82961 )

• lesions with foam cell accumulations are seen in coronary arteries

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
familial hypercholesterolemia		DOID:13810	OMIM:143890	J:82961

Genotype
MGI:3695716

ht3

• Allelic Composition: Ldlr^tm1(LDLR)Mae/Ldlr⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

homeostasis/metabolism

abnormal circulating lipid level ( J:67282 )

• decrease in plasma lipid levels that is accompanied by reduction in plasma apoproteins B, E, and AI

decreased circulating cholesterol level ( J:67282 )

• females exhibit a 4-fold reduction in steady state plasma cholesterol when fed normal chow

• when fed a high fat diet, plasma cholesterol levels increase due mainly to the increase in HDL cholesterol, although levels are still lower than in wild-type on a high fat diet

decreased circulating HDL cholesterol level ( J:67282 )

Genotype
MGI:3798392

ht4

• Allelic Composition: Ldlr^tm1Her/Ldlr⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * DBA/2

homeostasis/metabolism

hyperglycemia ( J:100916 )

• streptozotocin (STZ) treatment leads to 3-fold higher level of blood glucose in mice fed a high fat diet

• these high glucose levels persist for at least 12 weeks after STZ treatment

Genotype
MGI:3811878

ht5

• Allelic Composition: Ldlr^Rgsc366/Ldlr⁺
• Genetic Background: involves: C57BL/6JJcl * DBA/2JJcl

homeostasis/metabolism

increased circulating cholesterol level ( J:133634 )

• total serum cholesterol = 193 mg/dL, vs. a control range of 86-154 mg/dL

Genotype
MGI:3622658

cx6

• Allelic Composition: Ldlr^tm1Her/Ldlr⁺; Lep^ob/Lep^ob
• Genetic Background: B6.Cg-Lep^ob Ldlr^tm1Her

homeostasis/metabolism

increased circulating cholesterol level ( J:72027 )

• age dependent increase in cholesterol levels between 1 and 4 months of age, with maximal values at 3-4 months of age (282 mg/dl vs 81 md/dl in wild-type) that are maintained thereafter

increased circulating HDL cholesterol level ( J:72027 )

• slightly elevated at 3 and 8 months of age

increased liver cholesterol level ( J:72027 )

• livers exhibit slightly, but significantly, higher levels of cholesterol

increased liver triglyceride level ( J:72027 )

• livers exhibit about 10x higher levels of triglyceride, however no increase in plasma triglyceride levels

liver/biliary system

increased liver cholesterol level ( J:72027 )

• livers exhibit slightly, but significantly, higher levels of cholesterol

increased liver triglyceride level ( J:72027 )

• livers exhibit about 10x higher levels of triglyceride, however no increase in plasma triglyceride levels

Genotype
MGI:3695717

cx7

• Allelic Composition: Apoe^{tm1(APOE*2)Mae}/Apoe^{tm1(APOE*2)Mae}; Ldlr^tm1(LDLR)Mae/Ldlr⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6

homeostasis/metabolism

abnormal lipid homeostasis ( J:67282 )

• exhibit increased clearance of non-HDL lipoproteins (VLDL and LDL) from plasma

decreased susceptibility to hyperlipidemia ( J:67282 )

• do not develop type III hyperlipoproteinemia, exhibiting normal plasma cholesterol and triglyceride levels on a normal chow diet

• more resistant to diet-induced hyperlipidemia than single Apoe^tm1(APOE)Mae homozygotes

Genotype
MGI:4355226

cx8

• Allelic Composition: Apoe^{tm2(APOE*3)Mae}/Apoe^{tm2(APOE*3)Mae}; Ldlr^tm1(LDLR)Mae/Ldlr⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6

homeostasis/metabolism

amyloid beta deposits ( J:146721 )

• very little plaque development

abnormal circulating lipid level ( J:146721 )

• significantly lower lipid levels on a normal fat diet

nervous system

amyloid beta deposits ( J:146721 )

• very little plaque development

Genotype
MGI:4355231

cx9

• Allelic Composition: Apoe^{tm3(APOE*4)Mae}/Apoe^{tm3(APOE*4)Mae}; Ldlr^tm1(LDLR)Mae/Ldlr⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6

homeostasis/metabolism

amyloid beta deposits ( J:146721 )

• significant plaque development on a high fat diet relative to Apoe^{tm2(APOE*3)Mae} mice who show very little plaque development

abnormal circulating lipid level ( J:146721 )

• significantly lower lipid levels on a normal fat diet

increased circulating cholesterol level ( J:146721 )

• greater increase in total cholesterol when fed a high fat diet than seen in Apoe^{tm2(APOE*3)Mae} mice

• very high total cholesterol to triglyceride ratio on a high fat diet

• increased number of non-HDL particles

• plasma cholesterol decrease over time relative to mice lacking Ldlr^tm1(LDLR)Mae

increased circulating triglyceride level ( J:146721 )

• higher triglyceride levels in females on a normal fat diet

nervous system

amyloid beta deposits ( J:146721 )

• significant plaque development on a high fat diet relative to Apoe^{tm2(APOE*3)Mae} mice who show very little plaque development

Genotype
MGI:3798393

cx10

• Allelic Composition: Ldlr^tm1Her/Ldlr⁺; Tg(H2-K-AKR1B1)1Tj/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * DBA/2

homeostasis/metabolism

hyperglycemia ( J:100916 )

• streptozotocin (STZ) treatment leads to 3-fold higher level of blood glucose in mice fed a high fat diet

• these high glucose levels persist for at least 12 weeks after STZ treatment

cardiovascular system

increased susceptibility to atherosclerosis ( J:100916 )

• in mice made diabetic by STZ treatment and fed a cholesterol/cholic acid containing diet for 12 weeks, total aortic lesion area is doubled compared to Ldlr ^tm1Her heterozygotes that do not carry the transgene

• the presence of the transgene causes no difference in lesion size in non-diabetic mice

Genotype
MGI:3527876

cx11

• Allelic Composition: Cx3cl1^tm1Sgs/Cx3cl1^tm1Sgs; Ldlr^tm1Her/Ldlr⁺
• Genetic Background: involves: B6.129S4-Cx3cl1^tm1Sgs * B6.129S7-Ldlr^tm1Her/J

cardiovascular system

decreased susceptibility to atherosclerosis ( J:95279 )

• aortic-root lesion area is reduced in females by 28% but not reduced in males

homeostasis/metabolism

decreased circulating cholesterol level ( J:95279 )

• total serum cholesterol is reduced in male but not female mutants

decreased circulating LDL cholesterol level ( J:95279 )