Phenotypes Associated with This Genotype

Genotype
MGI:5906502

• Allelic Composition: Pnpla1^tm1Murm/Pnpla1^tm1Murm
• Genetic Background: involves: C57BL/6N

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

mortality/aging

neonatal lethality, complete penetrance ( J:240682 )

• mice die within 24 hours after birth

integument

impaired skin barrier function ( J:240682 )

• severe defect

abnormal epidermis stratum corneum morphology ( J:240682 )

• tightly packed structure, narrowed interstices

• loss or abnormalities in the cornified lipid envelope

abnormal epidermal lamellar body morphology ( J:240682 )

• decreased amount of intercellular lipid lamellae

abnormal keratohyalin granule morphology ( J:240682 )

• impaired granule secretion and abnormal vesicular structures

• defective lamellar bodies are retained within corneocytes

decreased keratohyalin granule number ( J:240682 )

• due to impaired granule secretion

epidermal hyperplasia ( J:240682 )

shiny skin ( J:240682 )

• in newborn mice

tight skin ( J:240682 )

• in newborn mice

homeostasis/metabolism

impaired skin barrier function ( J:240682 )

• severe defect

increased cholesterol level ( J:240682 )

• epidermal levels

abnormal free fatty acids level ( J:240682 )

• increased free fatty acid epidermal levels

abnormal ceramide level ( J:240682 )

• defective acylceramide biosynthesis in the epidermis with reduced esterified omega-hydroxyacyl-sphingosine and acylglucosylceramide but increased ceramide levels

increased triglyceride level ( J:240682 )

• epidermal levels at P0 but not E18.5

limbs/digits/tail

abnormal tail tip morphology ( J:240682 )

• necrotic