Phenotypes associated with this allele

• Allele Symbol: Cldn1^tm1Sts
• Allele Name: targeted mutation 1, Shoichiro Tsukida
• Allele ID: MGI:2183247
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cldn1^tm1Sts/Cldn1^tm1Sts	involves: 129S4/SvJae * C57BL/6	MGI:2663285

Genotype
MGI:2663285

hm1

• Allelic Composition: Cldn1^tm1Sts/Cldn1^tm1Sts
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

Cldn1^tm1Sts/Cldn1^tm1Sts mice show wrinkled skin and rapid postnatal lethality

mortality/aging

neonatal lethality, complete penetrance ( J:75447 )

• all homozygotes die within 1 day of birth

homeostasis/metabolism

dehydration ( J:75447 )

• newborn homozygotes exhibit severe dehydration due to excessive TEWL

impaired skin barrier function ( J:75447 )

• 12-hr-old homozygotes display excessive transepidermal water loss (TEWL)

• following transplantation of mutant skin onto nude mice, mutant grafts continue to display hyperproliferation of keratinocytes, a typical compensatory response of the barrier-defective epidermis

growth/size/body

weight loss ( J:75447 )

• newbon homozygotes exhibit rapid and steady weight loss (~85% of initial body weight at 12 hrs), consistent with excessive TEWL and dehydration

integument

impaired skin barrier function ( J:75447 )

• 12-hr-old homozygotes display excessive transepidermal water loss (TEWL)

• following transplantation of mutant skin onto nude mice, mutant grafts continue to display hyperproliferation of keratinocytes, a typical compensatory response of the barrier-defective epidermis

abnormal hair growth ( J:75447 )

• at 1 month after transplantation, mutant skin grafts placed onto the back of nude mice bear only a small number of short hairs whereas wild-type grafts bear numerous long hairs

• when hairs are cropped, mutant skin grafts appear to be thicker than wild-type grafts, and in some places they appear to be covered with infiltrates

hyperkeratosis ( J:75447 )

• newborn homozygotes exhibit no overt abnormalities in the layered organization of keratinocytes; however, the mutant stratum corneum appears to be thicker and compacted tighter than that of wild-type epidermis

thick epidermis ( J:75447 )

• at 1 month after transplantation, the epidermis of mutant skin grafts placed onto the back of nude mice is significantly thicker than that of either newborn homozygotes or wild-type grafts

wrinkled skin ( J:75447 )

• 12-hr-old homozygotes exhibit wrinkled skin