Phenotypes Associated with This Genotype

Genotype
MGI:5475250

• 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

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

epidermal necrosis ( J:194779 )

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

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

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

micrognathia ( J:194779 )

protruding tongue ( J:194779 )