Phenotypes Associated with This Genotype

Genotype
MGI:6286487

• Allelic Composition: Pnpla1^{tm1a(KOMP)Wtsi}/Pnpla1^{tm1a(KOMP)Wtsi}
• Genetic Background: B6NTac;B6N-A^tm1Brd Pnpla1^{tm1a(KOMP)Wtsi}/Ics

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

mortality/aging

neonatal lethality, complete penetrance ( J:242353 )

• mice die soon after birth

growth/size/body

eclabion ( J:242353 )

• eversions of the lips

decreased birth weight ( J:242353 )

integument

impaired skin barrier function ( J:242353 )

• E18.5 skin shows permeability to dye and transepidermal water loss is increased more than 2-fold at E18.5, indicating impaired outside-in and inside-out permeability barrier function

abnormal epidermis stratum corneum morphology ( J:242353 )

• stratum corneum does not have the normal basket-weave appearance

abnormal stratum corneum lipid matrix formation ( J:242353 )

• skin shows abnormal composition and organization of epidermal lipids

• epidermis shows defective intercorneocyte lipid organization with absence of the typical lamellae structure

• epidermis shows blockade in the production of omega-O-acylceramides resulting in omega-O-acylceramide loss in the stratum corneum and an accumulation of their precursors

• defects in cornified lipid envelope formation

hyperkeratosis ( J:242353 )

• thick, compact stratum corneum

• the presence of very compact and more numeorus horny layers

impaired stratum corneum desquamation ( J:242353 )

• corneodesmosomes persist to the upper layers of the cornified layer of the epidermis, indicative of delayed desquamation process

decreased keratohyalin granule number ( J:242353 )

decreased keratohyalin granule size ( J:242353 )

acanthosis ( J:242353 )

• mild acanthosis

shiny skin ( J:242353 )

tight skin ( J:242353 )

• tight skin without normal skin folds

behavior/neurological

absent gastric milk in neonates ( J:242353 )

• milk spot is absent in newborns

abnormal motor capabilities/coordination/movement ( J:242353 )

• newborns show reduced mobility

craniofacial

eclabion ( J:242353 )

• eversions of the lips

homeostasis/metabolism

impaired skin barrier function ( J:242353 )

• E18.5 skin shows permeability to dye and transepidermal water loss is increased more than 2-fold at E18.5, indicating impaired outside-in and inside-out permeability barrier function

abnormal free fatty acids level ( J:242353 )

• moderate increase in free linoleic acid in the epidermis

• glucosylceramide and corresponding free omega-OH-fatty acid accumulates in the epidermis

decreased fatty acids level ( J:242353 )

• omega-O-acyl fatty acids, the degradation products of omega-O-acylceramides are reduced in the epidermis

• the level of protein-bound ceramide and their catabolites, the protein-bound fatty acids, are reduced

abnormal sphingomyelin level ( J:242353 )

• omega-OH-ceramide-corresponding sphingomyelins are increased in the epidermis

abnormal ceramide level ( J:242353 )

• epidermis shows blockade in the production of omega-O-acylceramides resulting in omega-O-acylceramide loss in the stratum corneum and an accumulation of their precursors

• loss of linoleic acid-esterfied ceramide in the epidermis and instead, epidermis accumulates omega-OH-ceramide, an intermediate ceramide species

• glucosylceramide and corresponding free omega-OH-fatty acid accumulates in the epidermis

• the level of protein-bound ceramide and their catabolites, the protein-bound fatty acids, are reduced

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive congenital ichthyosis 10		DOID:0060719	OMIM:615024	J:242353