Phenotypes associated with this allele

• Allele Symbol: Elovl1^tm1.1Akih
• Allele Name: targeted mutation 1.1, Akio Kihara
• Allele ID: MGI:5532707
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Elovl1^tm1.1Akih/Elovl1^tm1.1Akih	involves: 129P2/OlaHsd * C57BL * C57BL/6J * DBA	MGI:5532708

Genotype
MGI:5532708

hm1

• Allelic Composition: Elovl1^tm1.1Akih/Elovl1^tm1.1Akih
• Genetic Background: involves: 129P2/OlaHsd * C57BL * C57BL/6J * DBA

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

mortality/aging

neonatal lethality, complete penetrance ( J:204477 )

• mice die within 1 day of birth

integument

impaired skin barrier function ( J:204477 , J:261184 )

• impaired formation of lipid lamellae and lamellar bodies with decreased number and smaller structures (J:204477)

• in the toluidine blue exclusion assay, P0 homozygotes show robust dye penetration into the skin, unlike wild-type controls (J:261184)

abnormal epidermal lamellar body morphology ( J:204477 )

• impaired formation of lipid lamellae and lamellar bodies with decreased number and smaller structures

abnormal skin appearance ( J:204477 )

• unwrinkled, shiny and erythematous skin

reddish skin ( J:204477 )

shiny skin ( J:204477 )

homeostasis/metabolism

impaired skin barrier function ( J:204477 , J:261184 )

• impaired formation of lipid lamellae and lamellar bodies with decreased number and smaller structures (J:204477)

• in the toluidine blue exclusion assay, P0 homozygotes show robust dye penetration into the skin, unlike wild-type controls (J:261184)

abnormal phospholipid level ( J:204477 )

• changes in phosphatidylcholine and phosphatidylethanolamine species in the epidermis

abnormal sphingomyelin level ( J:204477 )

• reduced C24 ceramides and sphingomyelin in the brain and liver

abnormal ceramide level ( J:204477 )

• reduced levels of nonacylated ceremideas with greater than C26 ultra long fatty acids and omega-O-acyl ceramides in the epidermis

• reduced C24 ceramides and sphingomyelin in the brain and liver

growth/size/body

decreased birth weight ( J:204477 )

decreased fetal weight ( J:204477 )

• less prominent than after birth