Phenotypes associated with this allele

• Allele Symbol: Itgb4^tm1Efu
• Allele Name: targeted mutation 1, Elaine Fuchs
• Allele ID: MGI:2183630
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Itgb4^tm1Efu/Itgb4^tm1Efu	involves: 129S1/Sv * 129X1/SvJ	MGI:3836295
hm2	Itgb4^tm1Efu/Itgb4^tm1Efu	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3836294

Genotype
MGI:3836295

hm1

• Allelic Composition: Itgb4^tm1Efu/Itgb4^tm1Efu
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

nervous system

nervous system phenotype ( J:77644 )

N • mice exhibit normal early myelination and normal myelination of neurons in culture

Genotype
MGI:3836294

hm2

• Allelic Composition: Itgb4^tm1Efu/Itgb4^tm1Efu
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Separation at the mesenchymal-epithelial junctions in skin of Itgb4^tm1Efu/Itgb4^tm1Efu mice

mortality/aging

neonatal lethality, complete penetrance ( J:77644 )

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

digestive/alimentary system

abnormal tongue epithelium morphology ( J:77644 )

• 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

abnormal esophageal epithelium morphology ( J:77644 )

• 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

respiratory failure ( J:77644 )

craniofacial

abnormal tongue epithelium morphology ( J:77644 )

• 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

abnormal epidermis stratum basale morphology ( J:77644 )

• 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

abnormal epidermis stratum spinosum morphology ( J:77644 )

• 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

abnormal epidermis suprabasal layer morphology ( J:77644 )

• pearls of cells with different-sized-nuclei and very little cytoplasm are present unlike in wild-type mice

dermal-epidermal separation ( J:77644 )

• mice exhibit separation of the dermo-epidermal junctions in the skin unlike in wild-type mice

blistering ( J:77644 )

• blistering at birth is severe unlike in wild-type mice

• however, delivery by Cesarean section reduced blistering

abnormal skin condition ( J:77644 )

• 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

abnormal skin physiology ( J:77644 )

• 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

abnormal tongue epithelium morphology ( J:77644 )

• 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