Phenotypes associated with this allele

• Allele Symbol: Elovl4^tm1Kzh
• Allele Name: targeted mutation 1, Kang Zhang
• Allele ID: MGI:3722127
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Elovl4^tm1Kzh/Elovl4^tm1Kzh	involves: C57BL/6	MGI:3722833
ht2	Elovl4^tm1Kzh/Elovl4^+	involves: C57BL/6	MGI:3722834

Genotype
MGI:3722833

hm1

• Allelic Composition: Elovl4^tm1Kzh/Elovl4^tm1Kzh
• Genetic Background: involves: C57BL/6

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

mortality/aging

perinatal lethality ( J:161118 )

growth/size/body

weight loss ( J:161118 )

• pups removed from their mothers at E19 loose 3% of body weight within 30 minutes

• weight loss of 15% of body weight within 5 hours

decreased fetal size ( J:124499 )

• at E18, mice are smaller than wild-type or heterozygote littermates

decreased fetal weight ( J:124499 )

• at E18, mice weigh about 13% less than wild-type or heterozygote littermates

limbs/digits/tail

short forelimb ( J:124499 )

• forelimbs shortened at E18

hematopoietic system

abnormal erythrocyte morphology ( J:124499 )

• red blood cell membranes contain higher levels poly-unsaturated fatty acids including docosahexaenoic acid (DHA) but lower levels of eicosapentaenoic acid a precursor to DHA

homeostasis/metabolism

impaired skin barrier function ( J:161118 )

• E19 homozygotes absorb toluidine blue unlike controls

integument

impaired skin barrier function ( J:161118 )

• E19 homozygotes absorb toluidine blue unlike controls

abnormal epidermis stratum corneum morphology ( J:161118 )

• very thin and fragile

abnormal skin appearance ( J:161118 )

shiny skin ( J:161118 )

• at E19

abnormal skin condition ( J:161118 )

• very long chain fatty acids, with more than 26 carbons are reduced in the skin

• there is a build up of 26 carbon fatty acids

thin skin ( J:161118 )

• at E19

• dermis-epidermis x-section is only 70% of normal thickness

Genotype
MGI:3722834

ht2

• Allelic Composition: Elovl4^tm1Kzh/Elovl4⁺
• Genetic Background: involves: C57BL/6

vision/eye

abnormal photoreceptor outer segment morphology ( J:124499 )

• somewhat disorganized and slightly shorter at 11 months of age

• however, the outer nuclear layer is equivalent to age-matched controls

abnormal cone electrophysiology ( J:124499 )

• slightly higher photopic b-wave responses at a stimulus intensity of log 0 cds/m²

abnormal rod electrophysiology ( J:124499 )

• slightly higher scotopic a-wave at a stimulus intensity of log 0 cds/m²

nervous system

abnormal photoreceptor outer segment morphology ( J:124499 )

• somewhat disorganized and slightly shorter at 11 months of age

• however, the outer nuclear layer is equivalent to age-matched controls