Mouse Genome Informatics
hm1
    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

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


Mouse Genome Informatics
hm2
    Itga6tm1Egl/Itga6tm1Egl
involves: 129S2/SvPas * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• the outer layer of the cortex displays only small punctate disruptions in the basement membrane while the basement membrane overlaying the neuroepithelium is largely absent
• however, unlike in Lamc1tm1Umr homozygotes radial glial endfeet are present

other phenotype
• the outer layer of the cortex displays only small punctate disruptions in the basement membrane while the basement membrane overlaying the neuroepithelium is largely absent


Mouse Genome Informatics
cx3
    Itga3tm1Jak/Itga3tm1Jak
Itga6tm1Egl/Itga6tm1Egl

involves: 129S2/SvPas * 129S4/SvJae
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• expected numbers survive through E16.5, but display multiple abnormalities

growth/size
• growth retarded by E16.5

limbs/digits/tail
• barely detectable at E10.5 and E11.5
• composed of a greater than normal number of smaller and less columnar cells
• decreased cell proliferation
• basal lamina in limbs is thinner and not always tightly apposed to epithelial cell membrane
• carpal/metacarpal and tarsal/metatarsal abnormalities seen
• occasional loss or atrophy of digits
• no apoptosis in interdigital area of limbs at E13.5 but seen between digits 1 and 2 and between digits 4 and 5
• close apposition or fusion of chondrogenic elements of digits 2, 3 , and 4 at E13.5 (distal phalanges) and E16.5 (phalanges 1 and 2)
• irregularly shaped fore- and hindlimb footplates at E12.5
• misshapen and lack of separation between digits apparent by E13.5

embryogenesis
• barely detectable at E10.5 and E11.5
• composed of a greater than normal number of smaller and less columnar cells
• decreased cell proliferation
• basal lamina in limbs is thinner and not always tightly apposed to epithelial cell membrane
• the vesical portion of the primitive urogenital sinus is missing
• caudal portions of the Mullerian ducts are absent or interrupted
• caudal portions of the Wolffian ducts are absent or interrupted
• in one fetus, the Wollfian duct is markedly dilated
• neural tube fails to close to varying degrees in 43% of mice

nervous system
• neural tube fails to close to varying degrees in 43% of mice
• severe disorganization of cerebral cortex

vision/eye
• large breaches in the anterior epithelium over the lens
• drastically disorganized
• massive ectopias into the vitreous body

respiratory system
• left lung almost absent at E15.5
• terminal lung buds fewer and larger at E13.5 and E14.5
• however, branching morphogenesis is not abolished, as terminal bronchi are present at E15.5 and E16.5
• at E15.5, the left lung is almost absent while the right lung is single-lobed
• bilateral lung hypoplasia
• right lung with only one lobe

endocrine/exocrine glands
• hypoplasia

renal/urinary system
• partial or complete
• genital folds fail to fuse resulting in agenesis of the phallic portion of the urethra
• urinary bladder fails to form

digestive/alimentary system
• caudal portion sometimes absent

integument
• rupture of the surface epithelium in the distal parts of limbs by E13.5