Phenotypes associated with this allele

• Allele Symbol: Slc27a4^pskn
• Allele Name: pigskin
• Allele ID: MGI:5475225
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc27a4^pskn/Slc27a4^pskn	involves: FVB	MGI:5475250
cx2	Bmp4^tm2.1Blh/Bmp4^+ Slc27a4^pskn/Slc27a4^pskn	involves: 129S6/SvEvTac * FVB/N	MGI:5475249

Genotype
MGI:5475250

hm1

• Allelic Composition: Slc27a4^pskn/Slc27a4^pskn
• Genetic Background: involves: FVB

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

Alteration of skin structure at the earlier stages of Slc27a4^pskn/Slc27a4^pskn mice

mortality/aging

neonatal lethality, complete penetrance ( J:194779 )

• within a few hours of birth

integument

increased keratinocyte proliferation ( J:194779 )

abnormal epidermal layer morphology ( J:194779 )

• aberrant epidermal differentiation

epidermal necrosis ( J:194779 )

• on the toes and tip of the tail in some mice at birth

hyperkeratosis ( J:194779 )

• massive

abnormal keratohyalin granule morphology ( J:194779 )

• change in patterning, size and distribution

abnormal epidermis stratum spinosum morphology ( J:194779 )

• increased number of cell layers

thick epidermis ( J:194779 )

abnormal skin appearance ( J:194779 )

• mice are born with smooth, tight and shiny skin

• skin cracking upon stretching

• exterior surface of the skin and the epidermal-dermal junction is flattened

shiny skin ( J:194779 )

• at birth

tight skin ( J:194779 )

• at birth

behavior/neurological

absent gastric milk in neonates ( J:194779 )

abnormal posture ( J:194779 )

• newborns are immobilized in fetal position due to tight skin

cellular

epidermal necrosis ( J:194779 )

• on the toes and tip of the tail in some mice at birth

increased keratinocyte proliferation ( J:194779 )

craniofacial

micrognathia ( J:194779 )

protruding tongue ( J:194779 )

digestive/alimentary system

protruding tongue ( J:194779 )

skeleton

micrognathia ( J:194779 )

growth/size/body

protruding tongue ( J:194779 )

Genotype
MGI:5475249

cx2

• Allelic Composition: Bmp4^tm2.1Blh/Bmp4⁺; Slc27a4^pskn/Slc27a4^pskn
• Genetic Background: involves: 129S6/SvEvTac * FVB/N

integument

impaired skin barrier function ( J:194779 )

• by E15.5

decreased hair follicle number ( J:194779 )

• of secondary hair follicles at E16.5

homeostasis/metabolism

impaired skin barrier function ( J:194779 )

• by E15.5