Phenotypes associated with this allele

• Allele Symbol: Elovl3^tm1Jaco
• Allele Name: targeted mutation 1, Anders Jacobsson
• Allele ID: MGI:3036781
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Elovl3^tm1Jaco/Elovl3^tm1Jaco	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3037068

Genotype
MGI:3037068

hm1

• Allelic Composition: Elovl3^tm1Jaco/Elovl3^tm1Jaco
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

Hair follicle, epidermis and sebaceous gland abnormalities Elovl3^tm1Jaco/Elovl3^tm1Jaco mice

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:88477 )

N • liver function is normal in these mice

enlarged sebaceous gland ( J:88477 )

• general hyperplasia of the sebaceous glands is seen

abnormal sebaceous gland physiology ( J:88477 )

• impaired ability to repel water

• mutant mice absorb about 3 times as much water when immersed

• the rate of water evaporation is not different from wild-types following immersion

abnormal sebaceous lipid secretion ( J:88477 )

• 10 fold decrease in a relatively more hydrophilic component and 10 fold increase in a relatively more hydrophobic component is seen in the triglyceride fraction of mutant hair lipids

• a large increase in eicosenoic acid (20:1) content of acetone extracted lipids from the hair is seen

• an approximately 40% decrease in C16:0, C18:0, and C18:1 fatty acids in acetone extracted lipids from the hair is seen

homeostasis/metabolism

abnormal adaptive thermogenesis ( J:88477 )

• mutants are unable to maintain their body temperature with wet fur even at room temperature

• brown fat function is normal in these mice

impaired skin barrier function ( J:88477 )

• mutants have a 70% higher rate of water evaporation

immune system

dermatitis ( J:88477 )

• mutants older than 6 months show irritated skin with distinctive scratch marks on the chin that resemble eczematous skin

pigmentation

abnormal hair follicle melanin granule morphology ( J:88477 )

• scattered hypergranulation is seen

integument

enlarged sebaceous gland ( J:88477 )

• general hyperplasia of the sebaceous glands is seen

abnormal sebaceous gland physiology ( J:88477 )

• impaired ability to repel water

• mutant mice absorb about 3 times as much water when immersed

• the rate of water evaporation is not different from wild-types following immersion

abnormal sebaceous lipid secretion ( J:88477 )

• 10 fold decrease in a relatively more hydrophilic component and 10 fold increase in a relatively more hydrophobic component is seen in the triglyceride fraction of mutant hair lipids

• a large increase in eicosenoic acid (20:1) content of acetone extracted lipids from the hair is seen

• an approximately 40% decrease in C16:0, C18:0, and C18:1 fatty acids in acetone extracted lipids from the hair is seen

impaired skin barrier function ( J:88477 )

• mutants have a 70% higher rate of water evaporation

dermatitis ( J:88477 )

• mutants older than 6 months show irritated skin with distinctive scratch marks on the chin that resemble eczematous skin

abnormal coat/ hair morphology ( J:88477 )

sparse hair ( J:88477 )

• mutants have reduced and tousled fur over the whole body

abnormal hair follicle morphology ( J:88477 )

• the nuclei of hair follicle cells appear irregular especially in cells of the inner layer of the outer root sheath

abnormal hair follicle melanin granule morphology ( J:88477 )

• scattered hypergranulation is seen

abnormal epidermis stratum corneum morphology ( J:88477 )

• extracellular domains display a paucity of lamellar bilayers and abundant amorphous, non-lamellar material

abnormal epidermis stratum granulosum morphology ( J:88477 )

• the lamellar bodies have abnormal contents and poorly organized extracellular membrane domains consistent with with abnormal neutral lipid accumulation

thick epidermis ( J:88477 )

• parts of the epidermis are thicker with observed hypergranulation