Phenotypes associated with this allele

• Allele Symbol: Cers3^tm1.1Rsnd
• Allele Name: targeted mutation 1.1, Roger Sandhoff
• Allele ID: MGI:5307225
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cers3^tm1.1Rsnd/Cers3^tm1.1Rsnd	involves: 129P2/OlaHsd * C57BL/6	MGI:5307231

Genotype
MGI:5307231

hm1

• Allelic Composition: Cers3^tm1.1Rsnd/Cers3^tm1.1Rsnd
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:179754 )

• mice die within 3 to 4 hours after birth and/or were devoured by the mother

integument

impaired skin barrier function ( J:179754 )

• at birth and at E18.5 detected by increased dye penetration and 2-fold increase in total evaporative water loss

abnormal stratum corneum lipid matrix formation ( J:179754 )

• mice lack ultra-long-chain acyl ceramides

• the lipid barrier is disrupted

• however, the corneocyte plasma membrane structure is conserved

hyperkeratosis ( J:179754 )

• twice as thick as in wild-type mice

impaired stratum corneum desquamation ( J:179754 )

• corneodesmosomes and the periderm persist in the stratum corneum due to defective cornification

abnormal epidermal lamellar body morphology ( J:179754 )

• lamellar body biogenesis and extrusion are accelerated compared to in wild-type mice

abnormal skin appearance ( J:179754 )

• skin is unwrinkled, erythematous and sticky

reddish skin ( J:179754 )

abnormal skin development ( J:179754 )

• mice exhibit arrested epidermal maturation at the embryonic pe-barrier stage

• cornified envelope assembly is impaired at the late steps

abnormal keratinocyte physiology ( J:179754 )

• delayed cornification

homeostasis/metabolism

dehydration ( J:179754 )

impaired skin barrier function ( J:179754 )

• at birth and at E18.5 detected by increased dye penetration and 2-fold increase in total evaporative water loss

abnormal lipid level ( J:179754 )

• mice lack ultra-long-chain acyl ceramides

behavior/neurological

absent gastric milk in neonates ( J:179754 )

• due to maternal rejection

growth/size/body

decreased body weight ( J:179754 )

• due to desiccation

immune system

increased susceptibility to fungal infection ( J:179754 )

• in E18.5 mice exposed to Candida albicans