Phenotypes associated with this allele

• Allele Symbol: Spink5^tm1Hov
• Allele Name: targeted mutation 1, Alain Hovnanian
• Allele ID: MGI:3573756
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Spink5^tm1Hov/Spink5^tm1Hov	involves: 129P2/OlaHsd * FVB	MGI:3575519
cx2	F2rl1^tm1Cgh/F2rl1^tm1Cgh Spink5^tm1Hov/Spink5^tm1Hov	involves: 129P2/OlaHsd * 129S4/SvJae	MGI:5311110

Genotype
MGI:3575519

hm1

• 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

Genotype
MGI:5311110

cx2

• Allelic Composition: F2rl1^tm1Cgh/F2rl1^tm1Cgh; Spink5^tm1Hov/Spink5^tm1Hov
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae

mortality/aging

neonatal lethality, complete penetrance ( J:180855 )

• mutants exhibit rapid lethality after birth due to severe dehydration

integument

abnormal vibrissa morphology ( J:180855 )

• mutants exhibit vibrissae abnormalities

abnormal skin morphology ( J:180855 )

• mutants exhibit skin erosions

• double mutant skin grafted onto athymic immunodeficient nude mice appears erythematous, scaly, and has no hair, shows acanthosis with papillomatosis, hyperkeratosis, and parakeratosis and an increase in mast cells and polynuclear eosinophilic cells

abnormal epidermis stratum corneum morphology ( J:180855 )

• stratum corneum detachment

acanthosis ( J:180855 )

• moderate acanthosis

homeostasis/metabolism

dehydration ( J:180855 )

• mutants exhibit rapid lethality after birth due to severe dehydration

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Netherton syndrome		DOID:0050474	OMIM:256500	J:180855