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Phenotypes Associated with This Genotype
Genotype
MGI:3836294
Allelic
Composition
Itgb4tm1Efu/Itgb4tm1Efu
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Itgb4tm1Efu mutation (0 available); any Itgb4 mutation (107 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Separation at the mesenchymal-epithelial junctions in skin of Itgb4tm1Efu/Itgb4tm1Efu mice

mortality/aging
• mice die within hours of birth due to respiratory failure, gastrointestional problems, and gross skin denuding

digestive/alimentary system
• mice exhibit separation of the epithelial-mesenchymal junctions in the tongue and esophagus unlike in wild-type mice
• mice exhibit epithelial degeneration unlike in wild-type mice
• outer layers detach and fuse through extracellular material to the opposing attached areas unlike in wild-type mice
• mice exhibit separation of the epithelial-mesenchymal junctions in the tongue and esophagus unlike in wild-type mice
• mice exhibit epithelial degeneration unlike in wild-type mice
• outer layers detach and fuse through extracellular material to the opposing attached areas unlike in wild-type mice

respiratory system

craniofacial
• mice exhibit separation of the epithelial-mesenchymal junctions in the tongue and esophagus unlike in wild-type mice
• mice exhibit epithelial degeneration unlike in wild-type mice
• outer layers detach and fuse through extracellular material to the opposing attached areas unlike in wild-type mice

integument
• cells within the layer are disorganized, detached from the basal lamina, and form pearls of cells with different-sized-nuclei and very little cytoplasm unlike in wild-type mice
• the innermost layer of the basal layer exhibit degeneration and hemidesmosomes are lost unlike in wild-type mice
• cells within the layer are disorganized, and pearls of cells with different-sized-nuclei and very little cytoplasm are present unlike in wild-type mice
• pearls of cells with different-sized-nuclei and very little cytoplasm are present unlike in wild-type mice
• mice exhibit separation of the dermo-epidermal junctions in the skin unlike in wild-type mice
• blistering at birth is severe unlike in wild-type mice
• however, delivery by Cesarean section reduced blistering
• at E15.5 skin is fragile unlike in wild-type mice
• at birth large sections of skin peel from the body surface unlike in wild-type mice
• mitotic cells are observed in the suprabasal layer unlike in wild-type mice
• basal epidermal cells exhibit apoptosis unlike in wild-type mice

growth/size/body
• mice exhibit separation of the epithelial-mesenchymal junctions in the tongue and esophagus unlike in wild-type mice
• mice exhibit epithelial degeneration unlike in wild-type mice
• outer layers detach and fuse through extracellular material to the opposing attached areas unlike in wild-type mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
junctional epidermolysis bullosa non-Herlitz type DOID:0060738 OMIM:226650
J:77644


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory