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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pltptm1Jia
targeted mutation 1, Xian-cheng Jiang
MGI:2176342
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pltptm1Jia/Pltptm1Jia involves: C57BL/6 MGI:2176343


Genotype
MGI:2176343
hm1
Allelic
Composition
Pltptm1Jia/Pltptm1Jia
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pltptm1Jia mutation (1 available); any Pltp mutation (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• normal testis morphology with no apparent spermatogenic defects
• normal weights of testis, epididymis, prostate, vesicular, and coagulating glands
• normal testicular and plasma testosterone levels
• normal sperm concentration, viability and morphology
• mutant caput shows a 26% reduction in alpha-tocopherol concentration relative to wild-type
• mutant cauda shows a 21% reduction in alpha-tocopherol concentration relative to wild-type
• when male homozygotes are crossed with wild-type females, the total number of pups produced over a 2-month mating period is reduced by 31%
• in vitro fertilization rates of wild-type oocytes with mutant spermatozoa are reduced by 60% relative to those measured with spermatozoa from wild-type males
• mutant spermatozoa show a significant reduction in alpha-tocopherol content relative to wild-type spermatozoa (caput: -29%, cauda: -26%), indicating vitamin E deficiency
• at 12-31 weeks age, male homozygotes show a 24% reduction in cauda spermatozoa with progressive motility relative to wild-type controls
• overall, a significant 9% decrease in progressive sperm motility is observed

homeostasis/metabolism
• HDL cholesteryl ester and free cholesterol are markedly reduced
• relative to controls on a high fat diet
• relative to controls on a high fat diet
• phospholipids transfer from VLDL to HDL does not occur
• HDL phospholipids are markedly reduced
• alpha-tocopherol, the main vitamin E isomer in vivo, is significantly less abundant in the spermatoza and epididymis of homozygous mutant male mice

vision/eye
• corneas exhibit detaching apical cells more frequently than in wild-type corneas
• mutants with corneal perforations exhibit a disorganized and thickened epithelium
• mutants exhibit an increase in corneal epithelial permeability to carboxyfluorescein, a characteristic of dry eye
• mutants have decreased expression of the tight junction protein occludin in the corneal epithelium
• mutants with corneal perforations exhibit a thickened epithelium
• mutants with corneal perforations exhibit a disorganized epithelium
• mutants with corneal perforations exhibit stromal damage
• 2.4% of mice exhibit spontaneous corneal perforations with stromal damage, infiltration of lymphocytes to the ulcus area and disorganization and thickening of the adjacent epithelia
• mutants show characteristics of dry eye syndrome, with morphologic changes in corneal epithelium, increased corneal permeability to carboxyfluorescein, and cleavage of corneal epithelium occludin
• however, tear fluid production is similar to wild-type and eyelid and meibomian gland morphologies are normal

cellular
• at 12-31 weeks age, male homozygotes show a 24% reduction in cauda spermatozoa with progressive motility relative to wild-type controls
• overall, a significant 9% decrease in progressive sperm motility is observed

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
dry eye syndrome DOID:10140 J:171592





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory