Phenotypes Associated with This Genotype

Genotype
MGI:2176343

• Allelic Composition: Pltp^tm1Jia/Pltp^tm1Jia
• Genetic Background: involves: C57BL/6

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

reproductive system

reproductive system phenotype ( J:107906 )

N • normal testis morphology with no apparent spermatogenic defects

N • normal weights of testis, epididymis, prostate, vesicular, and coagulating glands

N • normal testicular and plasma testosterone levels

N • normal sperm concentration, viability and morphology

abnormal caput epididymis morphology ( J:107906 )

♂ • mutant caput shows a 26% reduction in alpha-tocopherol concentration relative to wild-type

abnormal cauda epididymis morphology ( J:107906 )

♂ • mutant cauda shows a 21% reduction in alpha-tocopherol concentration relative to wild-type

reduced male fertility ( J:107906 )

♂ • 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%

impaired fertilization ( J:107906 )

• 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

abnormal sperm physiology ( J:107906 )

♂ • mutant spermatozoa show a significant reduction in alpha-tocopherol content relative to wild-type spermatozoa (caput: -29%, cauda: -26%), indicating vitamin E deficiency

asthenozoospermia ( J:107906 )

♂ • 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

abnormal circulating cholesterol level ( J:53521 )

decreased circulating HDL cholesterol level ( J:53521 )

• HDL cholesteryl ester and free cholesterol are markedly reduced

increased circulating LDL cholesterol level ( J:53521 )

• relative to controls on a high fat diet

increased circulating VLDL cholesterol level ( J:53521 )

• relative to controls on a high fat diet

abnormal phospholipid level ( J:53521 )

• phospholipids transfer from VLDL to HDL does not occur

• HDL phospholipids are markedly reduced

abnormal vitamin E level ( J:107906 )

• 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

abnormal cornea morphology ( J:171592 )

• corneas exhibit detaching apical cells more frequently than in wild-type corneas

abnormal cornea epithelium morphology ( J:171592 )

• 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

increased cornea epithelium thickness ( J:171592 )

• mutants with corneal perforations exhibit a thickened epithelium

disorganized cornea epithelium ( J:171592 )

• mutants with corneal perforations exhibit a disorganized epithelium

abnormal cornea stroma morphology ( J:171592 )

• mutants with corneal perforations exhibit stromal damage

cornea perforation ( J:171592 )

• 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

dry eyes ( J:171592 )

• 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

asthenozoospermia ( J:107906 )

♂ • 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