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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Prss8tm1.2Hum
targeted mutation 1.2, Edith Hummler
MGI:2384523
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Prss8tm1.2Hum/Prss8tm1.2Hum involves: 129 MGI:2386239
cn2
Prss8tm1.1Hum/Prss8tm1.2Hum
Tg(KRT14-cre)1Ipc/0
involves: 129/Sv * C57BL/6 * FVB/N * SJL MGI:3722899


Genotype
MGI:2386239
hm1
Allelic
Composition
Prss8tm1.2Hum/Prss8tm1.2Hum
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prss8tm1.2Hum mutation (0 available); any Prss8 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype




Genotype
MGI:3722899
cn2
Allelic
Composition
Prss8tm1.1Hum/Prss8tm1.2Hum
Tg(KRT14-cre)1Ipc/0
Genetic
Background
involves: 129/Sv * C57BL/6 * FVB/N * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prss8tm1.1Hum mutation (0 available); any Prss8 mutation (24 available)
Prss8tm1.2Hum mutation (0 available); any Prss8 mutation (24 available)
Tg(KRT14-cre)1Ipc mutation (0 available)
phenotype observed in females
phenotype observed in males
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/body
• 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
• medullary 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
• medullary 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
• 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





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
05/07/2024
MGI 6.23
The Jackson Laboratory