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Phenotypes Associated with This Genotype
Genotype
MGI:5307231
Allelic
Composition
Cers3tm1.1Rsnd/Cers3tm1.1Rsnd
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cers3tm1.1Rsnd mutation (0 available); any Cers3 mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die within 3 to 4 hours after birth and/or were devoured by the mother

integument
• at birth and at E18.5 detected by increased dye penetration and 2-fold increase in total evaporative water loss
• mice lack ultra-long-chain acyl ceramides
• the lipid barrier is disrupted
• however, the corneocyte plasma membrane structure is conserved
• twice as thick as in wild-type mice
• corneodesmosomes and the periderm persist in the stratum corneum due to defective cornification
• lamellar body biogenesis and extrusion are accelerated compared to in wild-type mice
• skin is unwrinkled, erythematous and sticky
• mice exhibit arrested epidermal maturation at the embryonic pe-barrier stage
• cornified envelope assembly is impaired at the late steps
• delayed cornification

homeostasis/metabolism
• at birth and at E18.5 detected by increased dye penetration and 2-fold increase in total evaporative water loss
• mice lack ultra-long-chain acyl ceramides

behavior/neurological
• due to maternal rejection

growth/size/body
• due to desiccation

immune system
• in E18.5 mice exposed to Candida albicans


Contributing Projects:
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
04/16/2024
MGI 6.23
The Jackson Laboratory