Phenotypes Associated with This Genotype

Genotype
MGI:3722899

• Allelic Composition: Prss8^tm1.1Hum/Prss8^tm1.2Hum; Tg(KRT14-cre)1Ipc/0
• Genetic Background: involves: 129/Sv * C57BL/6 * FVB/N * SJL

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

Early postnatal lethality and skin abnormalities in Prss8^tm1.1Hum/Prss8^tm1.2Hum Tg(KRT14-cre)1Ipc/0 mice

mortality/aging

postnatal lethality, complete penetrance ( J:100139 )

• die within 60 hours after birth

growth/size/body

decreased body weight ( J:100139 )

• newborns exhibit lower body weight

weight loss ( J:100139 )

• mutants lose more weight (10% in 6 hours vs. 2-3% in controls) as a result of dehydration

hematopoietic system

thymus medulla hypoplasia ( J:100139 )

• medullary hypoplasia in the thymus

homeostasis/metabolism

dehydration ( J:100139 )

impaired skin barrier function ( J:100139 )

• impaired skin barrier function as indicated by dehydration, skin permeability assay and transepidermal water loss measurements

abnormal lipid level ( J:100139 )

• the level of barrier-forming lipids with very long chain fatty acids that are covalently attached to proteins are significantly reduced in the epidermis

immune system

thymus medulla hypoplasia ( J:100139 )

• medullary hypoplasia in the thymus

integument

impaired skin barrier function ( J:100139 )

• impaired skin barrier function as indicated by dehydration, skin permeability assay and transepidermal water loss measurements

abnormal hair follicle morphology ( J:100139 )

• hair follicles are shorter and no keratin is visible

abnormal hair follicle development ( J:100139 )

• adnexal part of the skin shows dysmaturation of the hair follicles

decreased hair follicle number ( J:100139 )

abnormal epidermal layer morphology ( J:100139 )

• the lipid matrix composition is altered in the epidermis: bound omega-hydroxy fatty acid is decreased by 50%, fatty acid level is increased by 56% and the amount of covalently bound ceramides with an omega-hydroxy fatty acid and sphingosine groups is decreased by 27%

abnormal epidermis stratum corneum morphology ( J:100139 )

• stratum corneum is disorganized, more compact, and focally detached from the granular layer

• stratum corneum lipid composition is altered; sphingomyelin is increased 3.7-fold

abnormal corneocyte morphology ( J:100139 )

• corneocytes are enlarged

orthokeratosis ( J:100139 )

• orthokeratotic hyperkeratosis

reddish skin ( J:100139 )

• a few hours after birth, the skin appears reddish

wrinkled skin ( J:100139 )

• a few hours after birth, the skin appears wrinkled

endocrine/exocrine glands

thymus medulla hypoplasia ( J:100139 )

• medullary hypoplasia in the thymus

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive congenital ichthyosis 4B		DOID:0060713	OMIM:242500	J:100139