Mouse Genome Informatics
cn
    Prss8tm1.1Hum/Prss8tm1.2Hum
Tg(KRT14-cre)1Ipc/0

involves: 129/Sv * C57BL/6 * FVB/N * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Early postnatal lethality and skin abnormalities in Prss8tm1.1Hum/Prss8tm1.2Hum Tg(KRT14-cre)1Ipc/0 mice

mortality/aging
• die within 60 hours after birth

growth/size
• newborns exhibit lower body weight
• mutants lose more weight (10% in 6 hours vs. 2-3% in controls) as a result of dehydration

hematopoietic system
• medullar hypoplasia in the thymus

homeostasis/metabolism
• impaired skin barrier function as indicated by dehydration, skin permeability assay and transepidermal water loss measurements
• 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
• medullar hypoplasia in the thymus

integument
• impaired skin barrier function as indicated by dehydration, skin permeability assay and transepidermal water loss measurements
• hair follicles are shorter and no keratin is visible
• adnexal part of the skin shows dysmaturation of the hair follicles
• 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%
• 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
• corneocytes are enlarged
• orthokeratotic hyperkeratosis
• a few hours after birth, the skin appears reddish
• a few hours after birth, the skin appears wrinkled

endocrine/exocrine glands
• medullar hypoplasia in the thymus

Mouse Models of Human Disease
OMIM IDRef(s)
Ichthyosis, Congenital, Autosomal Recessive 4b; ARCI4B 242500 J:100139