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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Plvaptm1.2Rvst
targeted mutation 1.2, Radu V Stan
MGI:5473518
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Plvaptm1.2Rvst/Plvaptm1.2Rvst B6.Cg-Plvaptm1.2Rvst MGI:5473525
hm2
Plvaptm1.2Rvst/Plvaptm1.2Rvst involves: 129S4/SvJae * BALB/c * C57BL/6 * SJL MGI:5473524


Genotype
MGI:5473525
hm1
Allelic
Composition
Plvaptm1.2Rvst/Plvaptm1.2Rvst
Genetic
Background
B6.Cg-Plvaptm1.2Rvst
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Plvaptm1.2Rvst mutation (0 available); any Plvap mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: display 100% lethality between E13 and P2 on a congenic C57BL/6 background unlike mice on a mixed 129S4/SvJae, BALB/c, C57BL/6, and SJL where about 20% of mice survive to 3-4 months of age




Genotype
MGI:5473524
hm2
Allelic
Composition
Plvaptm1.2Rvst/Plvaptm1.2Rvst
Genetic
Background
involves: 129S4/SvJae * BALB/c * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Plvaptm1.2Rvst mutation (0 available); any Plvap mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: mice on a mixed background are found at about 20% the expected frequency at 3-4 months of age, unlike mice on a congenic C57BL/6 background that all die by P2

cardiovascular system
• caveolae stomatal diaphragms are absent from the lung, adrenals, pancreas, pituitary, thyroid, kidney, intestinal villi, and liver
• however, in the lung the surface density of endothelial cell caveolae is similar to controls
• diaphragms are absent from all fenestrae and transendothelial channels in all fenestrated capillaries in the adrenals, pancreas, intestine, choroid plexus, pituitary, thyroid and kidney peritubular capillaries
• fenestral pores display a larger variation of diameter
• caveolae stomatal diaphragms are absent from the capillaries in the lung
• caveolae stomatal diaphragms are absent from the lung, adrenals, pancreas, pituitary, thyroid, kidney, intestinal villi, and liver
• however, in the lung the surface density of endothelial cell caveolae is similar to controls
• diaphragms are absent from all fenestrae and transendothelial channels in all fenestrated capillaries in the adrenals, pancreas, intestine, choroid plexus, pituitary, thyroid and kidney peritubular capillaries
• passage of albumin-coated gold nanoparticles of 10, 15, and 25 nm indicate an increase in pore size in adrenal capillaries
• absence of diaphragms from all fenestrae in all fenestrated capillaries
• leakage of Evans Blue dye is dramatically increased in organs with fenestrated endothelial cells
• leakage of Evans Blue dye is highest in the intestine with minimal increases in the lungs and heart and no change in the liver

homeostasis/metabolism
• dramatic increase in chylomicrons remnants/very low-density lipoproteins
• sharp decrease in total plasma protein, albumin, and albumin/globulin ratio
• sharp decrease in total plasma protein, albumin, and albumin/globulin ratio
• at 3-4 weeks of age organs with fenestrated vessels (intestine, kidney and pancreas) show signs of edema
• edema is not due to inflammation
• at 3-4 weeks of age
• intestinal villi are distended with protein containing material accumulating between the enterocytes and stroma
• fluid contains albumin and beta globins at similar levels to blood plasma but sharply reduced alpha fractions
• significantly decreased at 4 weeks of age and does not vary much with time
• moderate increase at 4 weeks of age that does not vary much with time
• starting after 2 weeks of age and becoming more severe with age
• plasma levels are increased up to 5000?6000 mg/dl from 4 to 8 weeks of age
• after 8 weeks of age several tissues lipids are seen engorging the capillaries
• on the surface of the heart and liver after 8 weeks of age
• perivascular lipid deposits are seen at 10-12 weeks of age

adipose tissue
• at 3-4 weeks of age

growth/size/body
• about a 30-40% reduction in body weight at 4 weeks of age
• about a 15% decrease at 4 weeks of age
• similar in size to controls at birth but gradually develop signs of growth retardation
• due to accumulation of ascites

endocrine/exocrine glands
• in mice over 1 week of age

limbs/digits/tail
• bent tail

renal/urinary system
N
• no protein is detected in the urine between birth and 12 weeks of age
• absence of diaphragms from all fenestrae in all fenestrated capillaries

respiratory system
• caveolae stomatal diaphragms are absent from the capillaries in the lung

digestive/alimentary system
• at 3-4 weeks of age
• intestinal villi are distended with protein containing material accumulating between the enterocytes and stroma
• at 3-4 weeks of age
• intestinal villi are distended with protein containing material accumulating between the enterocytes and stroma





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory