Phenotypes Associated with This Genotype

Genotype
MGI:5288470

• Allelic Composition: Spink5^{Tn(Pgk2-sb10,sb-Tyr)1498Ove}/Spink5^{Tn(Pgk2-sb10,sb-Tyr)1498Ove}
• Genetic Background: involves: FVB/N

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

mortality/aging

neonatal lethality, complete penetrance ( J:93050 )

• mice die within several hours of birth

integument

integument phenotype ( J:93050 )

N • spinous layer is normal

impaired skin barrier function ( J:93050 )

• reduced at E17.5 and E19

• lost in newborns

abnormal epidermis stratum corneum morphology ( J:93050 )

• begins to peel off at E17.5 with focal detachment of granular cells

• widespread detachment at P0

abnormal epidermis stratum granulosum morphology ( J:93050 )

• at E17.5, mice exhibit focal detachment of granular cells unlike wild-type mice

blistering ( J:93050 )

• severe

homeostasis/metabolism

dehydration ( J:93050 )

• in newborns

impaired skin barrier function ( J:93050 )

• reduced at E17.5 and E19

• lost in newborns

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Netherton syndrome		DOID:0050474	OMIM:256500	J:93050