Phenotypes associated with this allele

• Allele Symbol: Cldn1^tm1Sats
• Allele Name: targeted mutation 1, Sachiko Tsukita
• Allele ID: MGI:8399712
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cldn1^tm1Sats/Cldn1^tm1Sats	B6JSlc.Cg-Cldn1^tm1Sats	MGI:8399729
ht2	Cldn1^tm1Sats/Cldn1^tm1.2Sats	B6JSlc.Cg-Cldn1^tm1Sats/Cldn1^tm1.2Sats	MGI:8399733

Genotype
MGI:8399729

hm1

• Allelic Composition: Cldn1^tm1Sats/Cldn1^tm1Sats
• Genetic Background: B6JSlc.Cg-Cldn1^tm1Sats

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

mortality/aging

mortality/aging ( J:234330 )

N • survival rate at 8 weeks is over 80%, similar to that seen in wild-type mice

integument

dermatitis ( J:234330 )

• a substantial number of Gr-1+ neutrophils are seen in the skin at 2 weeks of age but not at 8 weeks of age

• F4/80+ macrophages are detected in the epidermis at 2 weeks, but not at 8 weeks of age

• however, similar levels of inflammatory markers are seen in newborn skin as in wild-type

increased susceptibility to chemically induced skin inflammation ( J:234330 )

• mice exhibit increased skin thickness and show more severe edema and inflammation in response to hapten-induced contact hypersensitivity

dry hair ( J:234330 )

• mice show age-dependent changes in skin appearance, showing wrinkled skin at 1 week of age, abnormal dry hair at 2 weeks, and are nearly normal at 8 weeks

increased hair follicle number ( J:234330 )

abnormal epidermis stratum corneum morphology ( J:234330 )

• newborns show abnormal differentiation of the stratum corneum

hyperkeratosis ( J:234330 )

• orthohyperkeratotic stratum corneum

acanthosis ( J:234330 )

thick epidermis ( J:234330 )

• epidermis is thickened at 2 weeks of age, but not at 8 weeks of age

wrinkled skin ( J:234330 )

• mice show age-dependent changes in skin appearance, showing wrinkled skin at 1 week of age, abnormal dry hair at 2 weeks, and are nearly normal at 8 weeks

abnormal skin development ( J:234330 )

• newborns show abnormal differentiation of the stratum corneum

immune system

dermatitis ( J:234330 )

• a substantial number of Gr-1+ neutrophils are seen in the skin at 2 weeks of age but not at 8 weeks of age

• F4/80+ macrophages are detected in the epidermis at 2 weeks, but not at 8 weeks of age

• however, similar levels of inflammatory markers are seen in newborn skin as in wild-type

increased susceptibility to chemically induced skin inflammation ( J:234330 )

• mice exhibit increased skin thickness and show more severe edema and inflammation in response to hapten-induced contact hypersensitivity

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
atopic dermatitis		DOID:3310	OMIM:603165 OMIM:PS603165	J:234330

Genotype
MGI:8399733

ht2

• Allelic Composition: Cldn1^tm1Sats/Cldn1^tm1.2Sats
• Genetic Background: B6JSlc.Cg-Cldn1^tm1Sats/Cldn1^tm1.2Sats

mortality/aging

decreased survivor rate ( J:234330 )

• survival rate at 8 weeks of age is 4%

neonatal lethality, incomplete penetrance ( J:234330 )

• half of mice die within 1 day of birth

postnatal lethality, incomplete penetrance ( J:234330 )

• mice usually do not survive beyond weaning

integument

impaired skin barrier function ( J:234330 )

• newborn epidermis shows increased paracellular permeability through tight junctions

dermatitis ( J:234330 )

• severe skin defects in infancy that improve with age, similar to infantile eczema in human atopic dermatitis patients

• a substantial number of Gr-1+ neutrophils are seen in the skin at 2 weeks of age but not at 8 weeks of age

• F4/80+ macrophages are detected in the epidermis at 2 and 8 weeks of age

• skin shows increased expression of proinflammatory marker IL-beta by 1 week of age, which is later decreased in adults by 8 weeks of age

• neutrophil chemoattractant KC and macrophage chemoattractant MCP-1 expression in the skin is increased at 1 week of age but these levels decrease by 8 weeks of age

• skin of 2-week-old mice shows higher levels of IL-12p35, IL-12p40, IFN-gamma, and IL-10, but not IL-4

dry hair ( J:234330 )

• mice exhibit dry skin at 8 weeks of age

increased hair follicle number ( J:234330 )

abnormal skin morphology ( J:234330 )

• mice show age-dependent changes in skin appearance, with severe desquamation and wrinkled skin at 2 weeks, which improves but is still apparent at 8 weeks such that they still exhibit a different severity of skin lesion from wild-type by dermatitis score

abnormal epidermis stratum basale morphology ( J:234330 )

• 2-week-old mice show ectopic proliferation in the subapical basal layer

abnormal epidermis stratum corneum morphology ( J:234330 )

• newborns show abnormal differentiation of the stratum corneum

hyperkeratosis ( J:234330 )

orthokeratosis ( J:234330 )

• orthohyperkeratotic stratum corneum

acanthosis ( J:234330 )

epidermal desquamation ( J:234330 )

• mice show desquamination at 2 weeks and severe desquamation at 8 weeks of age

thick epidermis ( J:234330 )

• epidermis is thickened at 2 weeks of age but not at 8 weeks of age

wrinkled skin ( J:234330 )

• mice show wrinkled skin at 1 and 2 weeks of age

abnormal skin development ( J:234330 )

• abnormal skin differentiation in infant stages, especially in the proliferation layers, with skin mimic the changes seen in atopic dermatitis

• newborns show abnormal differentiation of the stratum corneum

immune system

decreased IgE level ( J:234330 )

• mice exhibit lower IgE serum levels

dermatitis ( J:234330 )

• severe skin defects in infancy that improve with age, similar to infantile eczema in human atopic dermatitis patients

• a substantial number of Gr-1+ neutrophils are seen in the skin at 2 weeks of age but not at 8 weeks of age

• F4/80+ macrophages are detected in the epidermis at 2 and 8 weeks of age

• skin shows increased expression of proinflammatory marker IL-beta by 1 week of age, which is later decreased in adults by 8 weeks of age

• neutrophil chemoattractant KC and macrophage chemoattractant MCP-1 expression in the skin is increased at 1 week of age but these levels decrease by 8 weeks of age

• skin of 2-week-old mice shows higher levels of IL-12p35, IL-12p40, IFN-gamma, and IL-10, but not IL-4

homeostasis/metabolism

impaired skin barrier function ( J:234330 )

• newborn epidermis shows increased paracellular permeability through tight junctions

hematopoietic system

decreased IgE level ( J:234330 )

• mice exhibit lower IgE serum levels

cellular

increased cell proliferation ( J:234330 )

• 2-week-old mice show ectopic proliferation in the subapical basal layer

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
atopic dermatitis		DOID:3310	OMIM:603165 OMIM:PS603165	J:234330