Phenotypes Associated with This Genotype

Genotype
MGI:3723354

• Allelic Composition: Plec^tm4Gwi/Plec^tm4Gwi; Tg(KRT5-cre)1Tak/?
• Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6

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

mortality/aging

postnatal lethality, complete penetrance ( J:124213 )

• mice die 1 to 3 days after birth of malnutrition likely due to the inability to intake food because of oral cavity blistering

growth/size/body

decreased body size ( J:124213 )

postnatal growth retardation ( J:124213 )

• mice exhibit reduced weight gain during their short lifespan

behavior/neurological

abnormal suckling behavior ( J:124213 )

• after the initial intake of milk, subsequent intakes were impaired and mice die with empty stomachs

homeostasis/metabolism

impaired skin barrier function ( J:124213 )

• as revealed by a dye transfer experiment, skin barrier function is impaired

• mice loss 3.5-fold more water than control Plec1^tm4Gwi homozygotes through transepidermal water loss

• following mechanical stress (tape stripping), mice exhibit blistering and dye penetration indicative of induced lesions that were not observed in control Plec1^tm4Gwi homozygotes

integument

impaired skin barrier function ( J:124213 )

• as revealed by a dye transfer experiment, skin barrier function is impaired

• mice loss 3.5-fold more water than control Plec1^tm4Gwi homozygotes through transepidermal water loss

• following mechanical stress (tape stripping), mice exhibit blistering and dye penetration indicative of induced lesions that were not observed in control Plec1^tm4Gwi homozygotes

blistering ( J:124213 )

• mice exhibit microblisters and large blisters (up to 1 cm²) on the upper extremities and in the armpits

• blisters form between the dermis and superficial epidermal layers

• blisters form in the oral cavity on the palates and tongue

• however, no blisters are found on the proximal esophagus

• mice subjected to skin mechanical stress form blisters while control Plec1^tm4Gwi homozygotes do not

skin lesions ( J:124213 )

• mice exhibit microlesions at various stages of wound healing

• following mechanical stress (tape stripping), mice exhibit blistering and dye penetration indicative of induced lesions that were not observed in control Plec1^tm4Gwi homozygotes

abnormal skin condition ( J:124213 )

• mice exhibit severe skin detachment on the fore- and hindlimb, occasionally around the mouth and nasal cavities, and rarely aplasia cutis (absence of skin)

• mice have fragile skin that is susceptible to mechanical stress injuries such as blisters and microlesions

• however, epidermal stratification and differentiation are normal as is keratinocyte proliferation and survival