Phenotypes Associated with This Genotype

Genotype
MGI:3583788

• Allelic Composition: Itga6^tm1Egl/Itga6^tm1Egl
• Genetic Background: either: (involves: 129S2/SvPas * C57BL/6) or (involves: 129S2/SvPas * C57BL/6 * CD-1)

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

mortality/aging

perinatal lethality, complete penetrance ( J:33712 )

• ratio of homozygotes present at E18.5 as expected

• 10 homozygotes born dead and one more survived no more than a few hours

craniofacial

abnormal mouth morphology ( J:33712 )

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

nervous system

abnormal neuronal precursor cell migration ( J:79739 )

• 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 morphology ( J:79739 )

• abnormal brain surface bulges observed at E18.5

disorganized cortical plate ( J:79739 )

• by E15.5 to E18.5, disorganized cortical plate

vision/eye

abnormal retina nerve fiber layer morphology ( J:79739 )

• ectopic neuroblasts found in the nerve fiber layer at E15.5-E16.5

abnormal vitreous body morphology ( J:79739 )

• clusters of ectopic neuroblasts found in the vitreous body at E15.5-E16.5

integument

abnormal skin condition ( J:33712 )

• loosely attached skin readily removed from legs and tail

• occasional indications of necrosis at sites of detachment

cellular

abnormal neuronal precursor cell migration ( J:79739 )

• 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/body

abnormal mouth morphology ( J:33712 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
junctional epidermolysis bullosa Herlitz type		DOID:0060737	OMIM:226700	J:33712