Mouse Genome Informatics
hm
    Slc27a4tm1Wsr/Slc27a4tm1Wsr
involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Abnormal appearance of Slc27a4tm1Wsr/Slc27a4tm1Wsr mice, with facial dysmorphia, skin abnormalities and a rigid torso

mortality/aging
• homozygotes died within a few hours of birth

behavior/neurological
• unable to suckle due to extremely tight skin

growth/size/body
• facial dysmorphia, protrusion of tongue
• appears the "skin is too small for body"
• compressed and rigid torso
• reduced body weight at birth

homeostasis/metabolism
• increased transdermal water loss

respiratory system
• reduced extension of alveolae and thickened hypercellular septa
• unable to breathe

craniofacial
• facial dysmorphia, protrusion of tongue

skeleton
• joints fixed in flexion contracture
• no abnormalities of bone or cartilage

integument
• increased transdermal water loss
• dermoepithelial junction flat and lacks rete pegs
• pilo-sebaceous structures reduced in number and appear less developed
• hyperkeratinization of the skin
• considerable thickening of the stratum corneum
• hyperkeratotic, homogeneous, eosinophilic mass
• layers fail to shed
• significantly smaller keratohyalin granules in the stratum granulosum
• increased number of layers in the stratum spinosum
• skin appears taut with overall waxy appearance, scaly
• thickened skin extending over and covering proximal extremities

Mouse Models of Human Disease
OMIM IDRef(s)
Restrictive Dermopathy, Lethal 275210 J:84096