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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Spink5tm1Hov
targeted mutation 1, Alain Hovnanian
MGI:3573756
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
\Spink5tm1Hov/\Spink5tm1Hov involves: 129P2/OlaHsd * FVB MGI:3575519
cn2
\Spink5tm1Hov/\Spink5tm2.1Hov
\Tg(KRT5-cre/ERT2)2Ipc/0
involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JRj * SJL MGI:8211397
cx3
\F2rl1tm1Cgh/\F2rl1tm1Cgh
\Spink5tm1Hov/\Spink5tm1Hov
involves: 129P2/OlaHsd * 129S4/SvJae MGI:5311110


Genotype
MGI:3575519
hm1
Allelic
Composition
\Spink5tm1Hov/\Spink5tm1Hov
Genetic
Background
involves: 129P2/OlaHsd * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Spink5tm1Hov mutation (0 available); any Spink5 mutation (58 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes die within a few hours of birth

homeostasis/metabolism
• 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
• 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
• 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
• 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
• whisker follicles display loss of cell adhesion in the inner root sheath and between the inner root sheath and the hair shaft
• the hair shaft of whisker follicles are shrunken and irregularly shaped
• intercellular separation is seen at the granular layer-stratum corneum interface
• the stratum corneum is lost over large areas of the skin surface
• mutant skin grafts placed onto nude mice display hypogranulosis
• mutant skin grafts placed onto nude mice display an acanthotic epidermis with papillomatosis
• shedding of skin in sheets and ribbons
• mutant skin grafts placed onto nude mice display marked erythema
• mutant skin grafts placed onto nude mice have large scales
• large oozing areas of denuded erythrodermic skin are seen predominantly in areas of trauma or friction
• 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:8211397
cn2
Allelic
Composition
\Spink5tm1Hov/\Spink5tm2.1Hov
\Tg(KRT5-cre/ERT2)2Ipc/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JRj * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Spink5tm1Hov mutation (0 available); any Spink5 mutation (58 available)
Spink5tm2.1Hov mutation (0 available); any Spink5 mutation (58 available)
Tg(KRT5-cre/ERT2)2Ipc mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
integument
• mice develop alopecic areas following tamoxifen treatment
• tamoxifen-treated mice develop red, scaly and crusty skin with alopecic areas secondary to scratching behavior
• mice develop skin lesions resembling Netherton syndrome within 10 days after starting tamoxifen treatment
• about 40% of mice exhibit spontaneous, tamoxifen-independent floxed allele excision as early as 2 weeks after birth due to the leaky nature of the transgene and develop skin lesions

mortality/aging
• survival of tamoxifen-treated mice depends on severity and extent of skin lesions with a mean survival time of 5 weeks

growth/size/body
• skin lesions are accompanied by weight loss and signs of emaciation in the most severe cases of tamoxifen-treated mice
• the most severe cases of skin lesions are accompanied by signs of emaciation in tamoxifen-treated mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Netherton syndrome DOID:0050474 OMIM:256500
J:357366




Genotype
MGI:5311110
cx3
Allelic
Composition
\F2rl1tm1Cgh/\F2rl1tm1Cgh
\Spink5tm1Hov/\Spink5tm1Hov
Genetic
Background
involves: 129P2/OlaHsd * 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
F2rl1tm1Cgh mutation (3 available); any F2rl1 mutation (60 available)
Spink5tm1Hov mutation (0 available); any Spink5 mutation (58 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutants exhibit rapid lethality after birth due to severe dehydration

integument
• mutants exhibit vibrissae abnormalities
• 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
• stratum corneum detachment
• moderate acanthosis

homeostasis/metabolism
• 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





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last database update
03/25/2025
MGI 6.24
The Jackson Laboratory