Mouse Genome Informatics
hm
    Lamc2tm1Uit/Lamc2tm1Uit
involves: C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• affected animals die by about day 5 postnatally

behavior/neurological
• by day 2, milk content in stomachs begins to drop

digestive/alimentary system
• separation of tissue layers in oral mucosa

renal/urinary system
• tissue layer separations in the epithelium

integument
• hypoplastic and rudimentary hemidesmosomes in the skin seen by transmission EM
• apoptosis in basal layers of skin
• dermal-epidermal tissues separating
• appears within 1-2 days of birth in 90% of mice
• mostly on paws and legs
• mice lacking blistering are smaller and weaker than wild-type

Mouse Models of Human Disease
OMIM IDRef(s)
Epidermolysis Bullosa, Junctional, Herlitz Type 226700 J:85981