Phenotypes associated with this allele

• Allele Symbol: Slc27a4^tm1.1Wsr
• Allele Name: targeted mutation 1.1, Wolfgang Stremmel
• Allele ID: MGI:2667329
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc27a4^tm1.1Wsr/Slc27a4^tm1.1Wsr	involves: 129P2/OlaHsd	MGI:3714614
hm2	Slc27a4^tm1.1Wsr/Slc27a4^tm1.1Wsr	involves: 129P2/OlaHsd * BALB/cJ	MGI:3714616

Genotype
MGI:3714614

hm1

• Allelic Composition: Slc27a4^tm1.1Wsr/Slc27a4^tm1.1Wsr
• Genetic Background: involves: 129P2/OlaHsd

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

homeostasis/metabolism

impaired skin barrier function ( J:103206 )

integument

impaired skin barrier function ( J:103206 )

hyperkeratosis ( J:103206 )

parakeratosis ( J:103206 )

Genotype
MGI:3714616

hm2

• Allelic Composition: Slc27a4^tm1.1Wsr/Slc27a4^tm1.1Wsr
• Genetic Background: involves: 129P2/OlaHsd * BALB/cJ

mortality/aging

neonatal lethality, complete penetrance ( J:84096 )

• mice die within shortly after birth

respiratory system

abnormal pulmonary alveolus morphology ( J:84096 )

• less extension

thick pulmonary interalveolar septum ( J:84096 )

• septa are thick and hypercellular

abnormal breathing pattern ( J:84096 )

• due to tight skin

respiratory distress ( J:84096 )

homeostasis/metabolism

cyanosis ( J:84096 )

impaired skin barrier function ( J:84096 )

craniofacial

abnormal facial morphology ( J:84096 )

• mice have facial dysmorphia at birth

behavior/neurological

abnormal suckling behavior ( J:84096 )

• due to tight skin

abnormal locomotor activation ( J:84096 )

• movement at birth is slow and restricted by tight skin

growth/size/body

abnormal facial morphology ( J:84096 )

• mice have facial dysmorphia at birth

decreased body weight ( J:84096 )

• at birth

herniated abdominal wall ( J:84096 )

integument

abnormal dermal layer morphology ( J:84096 )

• dermis appears condensed with compact collagen fibers

abnormal epidermis stratum corneum morphology ( J:84096 )

• corneal layer appears plastered together and fails to shed

hyperkeratosis ( J:84096 )

parakeratosis ( J:84096 )

decreased keratohyalin granule size ( J:84096 )

• stratum granulosum shows significantly smaller keratohyalin granules

abnormal epidermis stratum spinosum morphology ( J:84096 )

• stratum spinosum shows an increased number of cell layers

abnormal epidermal-dermal junction morphology ( J:84096 )

• dermo-epidermal junction is flat and lacks rete pefs

scaly skin ( J:84096 )

tight skin ( J:84096 )

abnormal skin condition ( J:84096 )

• at birth, the skin is taut, scaly, wrinkle-free with an overall waxy appearance

• skin is hyperplastic in appearance

thick skin ( J:84096 )

abnormal skin physiology ( J:84096 )

• the composition of epidermal ceramides C26:0 and C26:0-OH fatty acid substitutes is disturbed

impaired skin barrier function ( J:84096 )