Phenotypes Associated with This Genotype

Genotype
MGI:3527451

• Allelic Composition: Spink5^tm1Drh/Spink5^tm1Drh
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:95549 )

• homozygotes develop a dry and wrinkled appearance and die with 1-2 hours after birth from severe dehydration

homeostasis/metabolism

dehydration ( J:95549 )

• rapid dehydration despite normal feeding behavior is seen after birth

impaired skin barrier function ( J:95549 )

• skin barrier function is normal before birth but breaks down after birth in correlation with skin shedding resulting in increased transepidermal water loss

integument

impaired skin barrier function ( J:95549 )

• skin barrier function is normal before birth but breaks down after birth in correlation with skin shedding resulting in increased transepidermal water loss

abnormal epidermal layer morphology ( J:95549 )

• adhesion is lost in the transitional layer between the stratum corneum and granular layer

abnormal corneocyte envelope morphology ( J:95549 )

• the cornified envelope is more fragile in mutants than in wild-type mice

hyperkeratosis ( J:95549 )

• mild hyperkeratosis is seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Netherton syndrome		DOID:0050474	OMIM:256500	J:95549