Phenotypes associated with this allele

• Allele Symbol: Lrpap1^tm1Her
• Allele Name: targeted mutation 1, Joachim Herz
• Allele ID: MGI:1857214
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Lrpap1^tm1Her/Lrpap1^tm1Her	B6.129S7-Lrpap1^tm1Her	MGI:3622695
hm2	Lrpap1^tm1Her/Lrpap1^tm1Her	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3581862
cx3	Lrp1b^tm1Her/Lrp1b^tm1Her Lrpap1^tm1Her/Lrpap1^tm1Her	involves: 129S/SvEv * C57BL/6	MGI:3045503
cx4	Lrpap1^tm1Her/Lrpap1^tm1Her Tg(APPV717F)109Ili/0	involves: 129S7/SvEvBrd * C57BL/6 * DBA/2	MGI:3622696
cx5	Ldlr^tm1Her/Ldlr^tm1Her Lrpap1^tm1Her/Lrpap1^tm1Her	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3581865

Genotype
MGI:3622695

hm1

• Allelic Composition: Lrpap1^tm1Her/Lrpap1^tm1Her
• Genetic Background: B6.129S7-Lrpap1^tm1Her

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

renal/urinary system

abnormal kidney physiology ( J:106203 )

• endocytotic machinery in the proximal tubule is disturbed athough the ability to adjust to dietary phosphate levels is unaffected

endocrine/exocrine glands

abnormal thyroid gland morphology ( J:107358 )

• slight thyrocyte and nuclear hypertrophy but no goiter

abnormal thyroid gland physiology ( J:107358 )

• slightly reduced thyroglobulin in thyroid follicles but intracellular levels and levels on the apical membrane of thyrocytes are increased

• T4 levels in thyroglobulin are normal or slightly elevated

• free T4 levels unchanged

• TSH levels are elevated but not to the point of statistical significance

nervous system

abnormal brain interneuron morphology ( J:107552 )

• levels of somatostatin in neurons reduced

• number of neurons expressing somatostatin is reduced

behavior/neurological

abnormal spatial learning ( J:107552 )

• poorer performance in a Morris water maze

• after 6 days of training, swim a greater distance to find target than do controls

Genotype
MGI:3581862

hm2

• Allelic Composition: Lrpap1^tm1Her/Lrpap1^tm1Her
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

homeostasis/metabolism

abnormal circulating protein level ( J:43736 )

• alpha2 macroglobulin is removed from the circulation at about 25% of the normal rate

• no effect is seen on blood lipoproteins regardless of diet

• homozygotes thrived well and are superficially normal

cellular

abnormal cell physiology ( J:43736 )

• reduces expression of lipoprotein receptor related protein by 75% but has no effect on the LDL receptor

Genotype
MGI:3045503

cx3

• Allelic Composition: Lrp1b^tm1Her/Lrp1b^tm1Her; Lrpap1^tm1Her/Lrpap1^tm1Her
• Genetic Background: involves: 129S/SvEv * C57BL/6

normal phenotype

no abnormal phenotype detected ( J:90197 )

• homozygous mutants appear normal and have normal brain physiology

Genotype
MGI:3622696

cx4

• Allelic Composition: Lrpap1^tm1Her/Lrpap1^tm1Her; Tg(APPV717F)109Ili/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * DBA/2

nervous system

amyloid beta deposits ( J:107567 )

• elevated amyloid deposits over controls

astrocytosis ( J:107567 )

• develop reactive astrocytosis

homeostasis/metabolism

amyloid beta deposits ( J:107567 )

• elevated amyloid deposits over controls

Genotype
MGI:3581865

cx5

• Allelic Composition: Ldlr^tm1Her/Ldlr^tm1Her; Lrpap1^tm1Her/Lrpap1^tm1Her
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

homeostasis/metabolism

abnormal lipid level ( J:43736 )

• chylomicron reminent and LDL levels increased in blood

increased circulating cholesterol level ( J:43736 )

• 2 fold increase in total plasma cholesterol

increased circulating triglyceride level ( J:43736 )

• moderately increased plasma triglyceride levels