Phenotypes associated with this allele

• Allele Symbol: Pnpla1^tm1.1Fpwr
• Allele Name: targeted mutation 1.1, Franz PW Radner
• Allele ID: MGI:5904454
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pnpla1^tm1.1Fpwr/Pnpla1^tm1.1Fpwr	B6.129P2(Cg)-Pnpla1^tm1.1Fpwr	MGI:5904456

Genotype
MGI:5904456

hm1

• Allelic Composition: Pnpla1^tm1.1Fpwr/Pnpla1^tm1.1Fpwr
• Genetic Background: B6.129P2(Cg)-Pnpla1^tm1.1Fpwr

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

mortality/aging

neonatal lethality, complete penetrance ( J:240053 )

• all mice die within 12 hours of birth

integument

impaired skin barrier function ( J:240053 )

• 4-fold increase in transepidermal water loss

• however, topical application of epidermal lipids rebuilds the corneocyte-bound lipid envelope

abnormal skin morphology ( J:240053 )

• skin lacked elasticity

abnormal epidermal layer morphology ( J:240053 )

• reduced epidermal rete ridges

hyperkeratosis ( J:240053 )

impaired stratum corneum desquamation ( J:240053 )

• strongly condensed

acanthosis ( J:240053 )

• with increased number of cell layers

dry skin ( J:240053 )

reddish skin ( J:240053 )

shiny skin ( J:240053 )

wrinkled skin ( J:240053 )

abnormal skin development ( J:240053 )

• delayed differentiation and cornification

growth/size/body

decreased embryo size ( J:240053 )

• in newborn mice

decreased embryo weight ( J:240053 )

• in newborn mice

homeostasis/metabolism

impaired skin barrier function ( J:240053 )

• 4-fold increase in transepidermal water loss

• however, topical application of epidermal lipids rebuilds the corneocyte-bound lipid envelope

abnormal ceramide level ( J:240053 )

• absence of omega-O-acylceramides

behavior/neurological

absent gastric milk in neonates ( J:240053 )

decreased locomotor activity ( J:240053 )

• in newborn mice

embryo

decreased embryo size ( J:240053 )

• in newborn mice

decreased embryo weight ( J:240053 )

• in newborn mice

limbs/digits/tail

abnormal tail tip morphology ( J:240053 )

• necrotic