Phenotypes Associated with This Genotype

Genotype
MGI:3694660

• Allelic Composition: Itgb4^tm1Fgg/Itgb4^tm1Fgg
• Genetic Background: involves: 129S1/Sv * C57BL/6

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

mortality/aging

perinatal lethality, complete penetrance ( J:48924 )

• mice die within hours of birth presumably of dehydration

digestive/alimentary system

abnormal enterocyte proliferation ( J:48924 )

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

abnormal esophageal epithelium morphology ( J:48924 )

• 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

aphagia ( J:48924 )

• mice are unable to feed at birth

homeostasis/metabolism

dehydration ( J:48924 )

• mice die within hours of birth presumably of dehydration

integument

decreased keratinocyte adhesion ( J:48924 )

• in culture, keratinocytes exhibit reduced adhesion than wild-type cells

abnormal skin morphology ( J:48924 )

• mice exhibit degeneration in epidermal blisters without an increase in apoptosis

abnormal epidermal layer morphology ( J:48924 )

• the epidermis lacks hemidesmosomes unlike in wild-type mice

dermal-epidermal separation ( J:48924 )

• the epidermis separates from the dermis unlike in wild-type mice

blistering ( J:48924 )

• 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

cellular

decreased keratinocyte adhesion ( J:48924 )

• in culture, keratinocytes exhibit reduced adhesion than wild-type cells

abnormal enterocyte proliferation ( J:48924 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
junctional epidermolysis bullosa with pyloric atresia		DOID:0060733	OMIM:226730	J:48924