Phenotypes Associated with This Genotype

Genotype
MGI:6295452

• Allelic Composition: Wasl^tm1.1Ttha/Wasl^tm1.1Ttha; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: C57BL/6 * C57BL/6N * CBA

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

growth/size/body

decreased body weight ( J:271857 )

postnatal growth retardation ( J:271857 )

• stunted growth

mortality/aging

premature death ( J:271857 )

• 10% of mice develop severe atopic dermatitis-like skin and die before 30 days of age

integument

increased keratinocyte proliferation ( J:271857 )

impaired skin barrier function ( J:271857 )

• increase in transepidermal water loss at P15, P23, P30, P60, and P120, with transepidermal water loss 2-fold higher at P15 and 6-8 fold higher at P120

• keratinocytes show reduced expression and localization of tight junction proteins but not adherens junction proteins

skin inflammation ( J:271857 )

• mice develop spontaneous inflammation in the neck and face at 10 weeks after birth, with extensive infiltration of immune cells including mast cells, eosinophils, lymphocytes, monocytes, and neutrophils in skin

dermatitis ( J:271857 )

• 10% of mice develop severe atopic dermatitis-like skin

alopecia ( J:271857 )

epidermal hyperplasia ( J:271857 )

• increase in keratinocyte proliferation resulting in epidermal hyperplasia

• however, hyperproliferation response of epidermis to epidermal stress chemical TPA is similar to controls

thick epidermis ( J:271857 )

abnormal skin appearance ( J:271857 )

• nevi are seen at P180

dry skin ( J:271857 )

scaly skin ( J:271857 )

wrinkled skin ( J:271857 )

cellular

increased keratinocyte proliferation ( J:271857 )

digestive/alimentary system

abnormal esophagus morphology ( J:271857 )

• esophagus exhibits an abnormal mucosa

dilated esophagus ( J:271857 )

• esophagus exhibits a wide lumen size

homeostasis/metabolism

abnormal circulating chemokine level ( J:271857 )

• chemokines such as granulocyte-colony stimulating factor, keratinocyte chemoattractant and eotaxin are increased in the serum

increased circulating interleukin-1 alpha level ( J:271857 )

increased circulating interleukin-17 level ( J:271857 )

increased circulating interleukin-6 level ( J:271857 )

increased circulating tumor necrosis factor level ( J:271857 )

impaired skin barrier function ( J:271857 )

• increase in transepidermal water loss at P15, P23, P30, P60, and P120, with transepidermal water loss 2-fold higher at P15 and 6-8 fold higher at P120

• keratinocytes show reduced expression and localization of tight junction proteins but not adherens junction proteins

immune system

abnormal circulating chemokine level ( J:271857 )

• chemokines such as granulocyte-colony stimulating factor, keratinocyte chemoattractant and eotaxin are increased in the serum

increased circulating interleukin-1 alpha level ( J:271857 )

increased circulating interleukin-17 level ( J:271857 )

increased circulating interleukin-6 level ( J:271857 )

increased circulating tumor necrosis factor level ( J:271857 )

skin inflammation ( J:271857 )

• mice develop spontaneous inflammation in the neck and face at 10 weeks after birth, with extensive infiltration of immune cells including mast cells, eosinophils, lymphocytes, monocytes, and neutrophils in skin

dermatitis ( J:271857 )

• 10% of mice develop severe atopic dermatitis-like skin

increased susceptibility to bacterial infection ( J:271857 )

• mice exhibit increased colonization by S. aureus bacteria, showing an increase in the number of bacterial colonies from skin swab compared to controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
atopic dermatitis		DOID:3310	OMIM:603165 OMIM:PS603165	J:271857