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Phenotypes Associated with This Genotype
Genotype
MGI:2670851
Allelic
Composition
Slc27a4tm1Wsr/Slc27a4tm1Wsr
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc27a4tm1Wsr mutation (0 available); any Slc27a4 mutation (7 available)
phenotype observed in females
phenotype observed in males
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 (J:84096)
• homozygotes died within a few hours of birth (J:84096)

behavior/neurological
• unable to suckle due to extremely tight skin (J:84096)
• unable to suckle due to extremely tight skin (J:84096)

growth/size/body
• facial dysmorphia, protrusion of tongue (J:84096)
• facial dysmorphia, protrusion of tongue (J:84096)
• appears the "skin is too small for body" (J:84096)
• compressed and rigid torso (J:84096)
• appears the "skin is too small for body" (J:84096)
• compressed and rigid torso (J:84096)
• reduced body weight at birth (J:84096)
• reduced body weight at birth (J:84096)

homeostasis/metabolism
• increased transdermal water loss (J:84096)
• increased transdermal water loss (J:84096)

respiratory system
• reduced extension of alveolae and thickened hypercellular septa (J:84096)
• reduced extension of alveolae and thickened hypercellular septa (J:84096)
• unable to breathe (J:84096)
• unable to breathe (J:84096)

craniofacial
• facial dysmorphia, protrusion of tongue (J:84096)
• facial dysmorphia, protrusion of tongue (J:84096)

skeleton
• joints fixed in flexion contracture (J:84096)
• no abnormalities of bone or cartilage (J:84096)
• joints fixed in flexion contracture (J:84096)
• no abnormalities of bone or cartilage (J:84096)

integument
• increased transdermal water loss (J:84096)
• increased transdermal water loss (J:84096)
• dermoepithelial junction flat and lacks rete pegs (J:84096)
• pilo-sebaceous structures reduced in number and appear less developed (J:84096)
• hyperkeratinization of the skin (J:84096)
• dermoepithelial junction flat and lacks rete pegs (J:84096)
• pilo-sebaceous structures reduced in number and appear less developed (J:84096)
• hyperkeratinization of the skin (J:84096)
• considerable thickening of the stratum corneum (J:84096)
• hyperkeratotic, homogeneous, eosinophilic mass (J:84096)
• layers fail to shed (J:84096)
• considerable thickening of the stratum corneum (J:84096)
• hyperkeratotic, homogeneous, eosinophilic mass (J:84096)
• layers fail to shed (J:84096)
• significantly smaller keratohyalin granules in the stratum granulosum (J:84096)
• significantly smaller keratohyalin granules in the stratum granulosum (J:84096)
• increased number of layers in the stratum spinosum (J:84096)
• increased number of layers in the stratum spinosum (J:84096)
• skin appears taut with overall waxy appearance, scaly (J:84096)
• skin appears taut with overall waxy appearance, scaly (J:84096)
• thickened skin extending over and covering proximal extremities (J:84096)
• thickened skin extending over and covering proximal extremities (J:84096)

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory