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Phenotypes Associated with This Genotype
Genotype
MGI:3694660
Allelic
Composition
Itgb4tm1Fgg/Itgb4tm1Fgg
Genetic
Background
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Itgb4tm1Fgg mutation (0 available); any Itgb4 mutation (40 available)
phenotype observed in females
phenotype observed in males
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 ID Ref(s)
Epidermolysis Bullosa Junctionalis with Pyloric Atresia 226730 J:48924


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/24/2016
MGI 6.04
The Jackson Laboratory