Mouse Genome Informatics
hm
    Itgb4tm1Fgg/Itgb4tm1Fgg
involves: 129S1/Sv * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• mice die within hours of birth presumably of dehydration

digestive/alimentary system
• cells in the intervillar space exhibit lower proliferation than in wild-type mice
• the stratified epithelium at the pyloric junction of the esophagus detaches from the underlying connective tissue and degenerates unlike in wild-type mice

behavior/neurological
• mice are unable to feed at birth

homeostasis/metabolism
• mice die within hours of birth presumably of dehydration

integument
• mice exhibit degeneration in epidermal blisters without an increase in apoptosis
• the epidermis lacks hemidesmosomes unlike in wild-type mice
• the epidermis separates from the dermis unlike in wild-type mice
• mice exhibit extensive blistering of the skin on the abdomen, ventral portion of the torso, the paws and the tip of the tail unlike in wild-type mice
• in culture, keratinocytes exhibit reduced adhesion than wild-type cells

cellular
• cells in the intervillar space exhibit lower proliferation than in wild-type mice

Mouse Models of Human Disease
OMIM IDRef(s)
Epidermolysis Bullosa Junctionalis with Pyloric Atresia 226730 J:48924