Phenotypes Associated with This Genotype

Genotype
MGI:2670851

• Allelic Composition: Slc27a4^tm1Wsr/Slc27a4^tm1Wsr
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

Abnormal appearance of Slc27a4^tm1Wsr/Slc27a4^tm1Wsr mice, with facial dysmorphia, skin abnormalities and a rigid torso

mortality/aging

neonatal lethality, complete penetrance ( J:84096 )

• homozygotes died within a few hours of birth

digestive/alimentary system

protruding tongue ( J:84096 )

behavior/neurological

abnormal suckling behavior ( J:84096 )

• unable to suckle due to extremely tight skin

growth/size/body

abnormal facial morphology ( J:84096 )

• facial dysmorphia

protruding tongue ( J:84096 )

abnormal postnatal growth/weight/body size ( J:84096 )

• appears the "skin is too small for body"

• compressed and rigid torso

decreased body weight ( J:84096 )

• reduced body weight at birth

homeostasis/metabolism

abnormal fluid regulation ( J:84096 )

impaired skin barrier function ( J:84096 )

• increased transdermal water loss

respiratory system

abnormal pulmonary alveolus morphology ( J:84096 )

• reduced extension of alveolae and thickened hypercellular septa

respiratory distress ( J:84096 )

• unable to breathe

craniofacial

abnormal facial morphology ( J:84096 )

• facial dysmorphia

protruding tongue ( J:84096 )

skeleton

joint contracture ( J:84096 )

• joints fixed in flexion contracture

• no abnormalities of bone or cartilage

integument

impaired skin barrier function ( J:84096 )

• increased transdermal water loss

abnormal pilosebaceous unit morphology ( J:84096 )

• pilo-sebaceous structures reduced in number and appear less developed

abnormal epidermal layer morphology ( J:84096 )

• hyperkeratinization of the skin

hyperkeratosis ( J:84096 )

• considerable thickening of the stratum corneum

• hyperkeratotic, homogeneous, eosinophilic mass

• layers fail to shed

decreased keratohyalin granule size ( J:84096 )

• significantly smaller keratohyalin granules in the stratum granulosum

abnormal epidermis stratum spinosum morphology ( J:84096 )

• increased number of layers in the stratum spinosum

abnormal epidermal-dermal junction morphology ( J:84096 )

• dermo-epithelial junction is flat and lacks rete pegs

tight skin ( J:84096 )

• skin appears taut with overall waxy appearance, scaly

thick skin ( J:84096 )

• thickened skin extending over and covering proximal extremities

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
restrictive dermopathy		DOID:0060762	OMIM:PS275210	J:84096