Phenotypes associated with this allele

• Allele Symbol: Enpp6^tm1Aoki
• Allele Name: targeted mutation 1, Junken Aoki
• Allele ID: MGI:8226230
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Enpp6^tm1Aoki/Enpp6^tm1Aoki	B6.129S-Enpp6^tm1Aoki	MGI:8239617

Genotype
MGI:8239617

hm1

• Allelic Composition: Enpp6^tm1Aoki/Enpp6^tm1Aoki
• Genetic Background: B6.129S-Enpp6^tm1Aoki

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

nervous system

abnormal oligodendrocyte morphology ( J:283191 )

• at P14, many myelin-associated glycoprotein (MAG)-positive oligodendrocytes appear immature with round shapes

abnormal myelin sheath morphology ( J:283191 )

• Kluver-Barrera staining of adult and P14 brain sections indicates that the myelin sheath is less developed than in wild-type controls

• EM images of brain tissues from P14 and adult mice show a reduction in the number of myelin sheath layers

abnormal myelination ( J:283191 )

• Kluver-Barreras staining of brain sections from adult mice indicates abnormal myelin development; myelin fibers and sheath appear less developed at P14

dysmyelination ( J:283191 )

• at P14, many myelin-associated glycoprotein (MAG)-positive oligodendrocytes remain round in shape, indicating that they fail to wrap axons to form myelin sheath

liver/biliary system

hepatic steatosis ( J:283191 )

• mice fed a normal diet develop mild symptoms of fatty liver, as determined by oil red O staining

increased susceptibility to diet-induced hepatic steatosis ( J:283191 )

• mice fed a choline-deficient diet for one week exhibit severe fatty liver phenotypes at an early stage, as determined by oil red O staining

homeostasis/metabolism

increased glycerophosphocholine level ( J:283191 )

• LC-MS/MS analysis indicates that adult mice accumulate beta-glycerophosphocholine (beta-GPC), a structural isomer of alpha-GPC, in their urine

• however, the levels of endogenous choline-containing compounds, including free choline, betaine, alpha-GPC, lysophosphatidylcholine (LPC) and phosphatidylcholine (PC), are similar to those of wild-type controls in the plasma, liver and brain

abnormal urine homeostasis ( J:283191 )

• LC-MS/MS analysis indicates that adult mice accumulate beta-glycerophosphocholine (beta-GPC), a structural isomer of alpha-GPC, in their urine

abnormal metabolism ( J:283191 )

• when deuterium-labeled beta-glycerophosphocholine (D-beta-GPC) is intravenously injected into mice, the D-phosphatidylcholine (D-PC) levels in the liver, brain and kidney are significantly lower than in similarly injected wild-type mice

• when deuterium-labeled alpha-glycerophosphocholine (D-alpha-GPC) is intraperitonially injected into mice, significantly less D-alpha-GPC is incorporated into the liver and converted to D-PC than in similarly injected wild-type mice, indicating altered alpha-GPC metabolism

• however, when D-alpha-GPC or D-choline is injected intravenously, the levels of D-PC detected in liver are not significantly different from those in similarly injected wild-type mice

cellular

abnormal oligodendrocyte morphology ( J:283191 )

• at P14, many myelin-associated glycoprotein (MAG)-positive oligodendrocytes appear immature with round shapes

renal/urinary system

abnormal urine homeostasis ( J:283191 )

• LC-MS/MS analysis indicates that adult mice accumulate beta-glycerophosphocholine (beta-GPC), a structural isomer of alpha-GPC, in their urine