Phenotypes Associated with This Genotype

Genotype
MGI:3575519

• Allelic Composition: Spink5^tm1Hov/Spink5^tm1Hov
• Genetic Background: involves: 129P2/OlaHsd * FVB

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

mortality/aging

neonatal lethality, complete penetrance ( J:96435 )

• homozygotes die within a few hours of birth

homeostasis/metabolism

impaired skin barrier function ( J:96435 )

• homozygotes display increased dye penetration even in areas where no skin detachment is seen

• trans-epidermal water loss is 3- and 8-time greater in homozygotes at E18.5 and in neonates, respectively

integument

impaired skin barrier function ( J:96435 )

• homozygotes display increased dye penetration even in areas where no skin detachment is seen

• trans-epidermal water loss is 3- and 8-time greater in homozygotes at E18.5 and in neonates, respectively

abnormal hair shaft morphology ( J:96435 )

• the few erupted hair shafts are poorly oriented and abnormally curved

• mutant skin grafts placed on to nude mice do not have any erupted hair shafts

abnormal hair follicle morphology ( J:96435 )

• premature keratinization of the inner root sheath and hair shaft in the lower portion of the follicle

• mutant skin grafts placed onto nude mice display disorganized hair follicles

abnormal vibrissa follicle morphology ( J:96435 )

• whisker follicles display loss of cell adhesion in the inner root sheath and between the inner root sheath and the hair shaft

abnormal vibrissa morphology ( J:96435 )

• the hair shaft of whisker follicles are shrunken and irregularly shaped

sparse vibrissae ( J:96435 )

abnormal epidermal layer morphology ( J:96435 )

• intercellular separation is seen at the granular layer-stratum corneum interface

abnormal epidermis stratum corneum morphology ( J:96435 )

• the stratum corneum is lost over large areas of the skin surface

hyperkeratosis ( J:96435 )

parakeratosis ( J:96435 )

abnormal epidermis stratum granulosum morphology ( J:96435 )

• mutant skin grafts placed onto nude mice display hypogranulosis

acanthosis ( J:96435 )

• mutant skin grafts placed onto nude mice display an acanthotic epidermis with papillomatosis

epidermal desquamation ( J:96435 )

• shedding of skin in sheets and ribbons

reddish skin ( J:96435 )

• mutant skin grafts placed onto nude mice display marked erythema

scaly skin ( J:96435 )

• mutant skin grafts placed onto nude mice have large scales

skin lesions ( J:96435 )

• large oozing areas of denuded erythrodermic skin are seen predominantly in areas of trauma or friction

decreased skin tensile strength ( J:96435 )

• very fragile skin

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Netherton syndrome		DOID:0050474	OMIM:256500	J:96435