Mouse Genome Informatics
hm
    Itga6tm1Egl/Itga6tm1Egl
either: (involves: 129S2/SvPas * C57BL/6) or (involves: 129S2/SvPas * C57BL/6 * CD-1)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• ratio of homozygotes present at E18.5 as expected
• 10 homozygotes born dead and one more survived no more than a few hours

craniofacial
• epithelium of tongue, oral and nasal cavities, larynx, and esophagus

nervous system
• small clumps of neuroblast continuous with the cortical plate but protruding from the brain surface by E14.5
• by E15.5 to E18.5, outgrowths cross the basement membrane surrounding the brain and pia matter and form clumps of ectopic neuroblasts in the subarachnoid space
• abnormal brain surface bulges observed at E18.5
• by E15.5 to E18.5, disorganized cortical plate

vision/eye
• ectopic neuroblasts found in the nerve fiber layer at E15.5-E16.5
• clusters of ectopic neuroblasts found in the vitreous body at E15.5-E16.5

integument
• loosely attached skin readily removed from legs and tail
• occasional indications of necrosis at sites of detachment

cellular
• small clumps of neuroblast continuous with the cortical plate but protruding from the brain surface by E14.5
• by E15.5 to E18.5, outgrowths cross the basement membrane surrounding the brain and pia matter and form clumps of ectopic neuroblasts in the subarachnoid space

growth/size
• epithelium of tongue, oral and nasal cavities, larynx, and esophagus

Mouse Models of Human Disease
OMIM IDRef(s)
Epidermolysis Bullosa, Junctional, Herlitz Type 226700 J:33712