Phenotypes Associated with This Genotype

Genotype
MGI:8211397

• Allelic Composition: Spink5^tm1Hov/Spink5^tm2.1Hov; Tg(KRT5-cre/ERT2)2Ipc/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JRj * SJL

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

integument

alopecia ( J:357366 )

• mice develop alopecic areas following tamoxifen treatment

scaly skin ( J:357366 )

• tamoxifen-treated mice develop red, scaly and crusty skin with alopecic areas secondary to scratching behavior

skin lesions ( J:357366 )

• 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

premature death ( J:357366 )

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

growth/size/body

weight loss ( J:357366 )

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

cachexia ( J:357366 )

• 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