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

growth/size/body
• 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


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

cellular
• 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/body
• 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