Allele Symbol Allele Name Allele ID |
Prss8tm1.2Hum targeted mutation 1.2, Edith Hummler MGI:2384523 |
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Summary |
2 genotypes
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
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♀ | 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
• die within 60 hours after birth
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• newborns exhibit lower body weight
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• mutants lose more weight (10% in 6 hours vs. 2-3% in controls) as a result of dehydration
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• medullary hypoplasia in the thymus
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• impaired skin barrier function as indicated by dehydration, skin permeability assay and transepidermal water loss measurements
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• the level of barrier-forming lipids with very long chain fatty acids that are covalently attached to proteins are significantly reduced in the epidermis
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• medullary hypoplasia in the thymus
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• impaired skin barrier function as indicated by dehydration, skin permeability assay and transepidermal water loss measurements
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• hair follicles are shorter and no keratin is visible
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• adnexal part of the skin shows dysmaturation of the hair follicles
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• 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%
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• 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
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• corneocytes are enlarged
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• orthokeratotic hyperkeratosis
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• a few hours after birth, the skin appears reddish
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• a few hours after birth, the skin appears wrinkled
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• medullary hypoplasia in the thymus
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
autosomal recessive congenital ichthyosis 4B | DOID:0060713 |
OMIM:242500 |
J:100139 |
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 12/10/2024 MGI 6.24 |
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