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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Itga6tm1Egl
targeted mutation 1, Elisabeth Georges-Labouesse
MGI:1857793
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Itga6tm1Egl/Itga6tm1Egl either: (involves: 129S2/SvPas * C57BL/6) or (involves: 129S2/SvPas * C57BL/6 * CD-1) MGI:3583788
hm2
Itga6tm1Egl/Itga6tm1Egl involves: 129S2/SvPas * C57BL/6 MGI:3761291
cx3
Itga3tm1Jak/Itga3tm1Jak
Itga6tm1Egl/Itga6tm1Egl
involves: 129S2/SvPas * 129S4/SvJae MGI:2169730


Genotype
MGI:3583788
hm1
Allelic
Composition
Itga6tm1Egl/Itga6tm1Egl
Genetic
Background
either: (involves: 129S2/SvPas * C57BL/6) or (involves: 129S2/SvPas * C57BL/6 * CD-1)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Itga6tm1Egl mutation (0 available); any Itga6 mutation (163 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• ratio of homozygotes present at E18.5 as expected (J:33712)
• 10 homozygotes born dead and one more survived no more than a few hours (J:33712)
• ratio of homozygotes present at E18.5 as expected (J:33712)
• 10 homozygotes born dead and one more survived no more than a few hours (J:33712)

craniofacial
• epithelium of tongue, oral and nasal cavities, larynx, and esophagus (J:33712)
• epithelium of tongue, oral and nasal cavities, larynx, and esophagus (J:33712)

nervous system
• small clumps of neuroblast continuous with the cortical plate but protruding from the brain surface by E14.5 (J:79739)
• 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 (J:79739)
• small clumps of neuroblast continuous with the cortical plate but protruding from the brain surface by E14.5 (J:79739)
• 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 (J:79739)
• abnormal brain surface bulges observed at E18.5 (J:79739)
• abnormal brain surface bulges observed at E18.5 (J:79739)
• by E15.5 to E18.5, disorganized cortical plate (J:79739)
• by E15.5 to E18.5, disorganized cortical plate (J:79739)

vision/eye
• ectopic neuroblasts found in the nerve fiber layer at E15.5-E16.5 (J:79739)
• ectopic neuroblasts found in the nerve fiber layer at E15.5-E16.5 (J:79739)
• clusters of ectopic neuroblasts found in the vitreous body at E15.5-E16.5 (J:79739)
• clusters of ectopic neuroblasts found in the vitreous body at E15.5-E16.5 (J:79739)

integument
• loosely attached skin readily removed from legs and tail (J:33712)
• occasional indications of necrosis at sites of detachment (J:33712)
• loosely attached skin readily removed from legs and tail (J:33712)
• occasional indications of necrosis at sites of detachment (J:33712)

cellular
• small clumps of neuroblast continuous with the cortical plate but protruding from the brain surface by E14.5 (J:79739)
• 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 (J:79739)
• small clumps of neuroblast continuous with the cortical plate but protruding from the brain surface by E14.5 (J:79739)
• 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 (J:79739)

growth/size/body
• epithelium of tongue, oral and nasal cavities, larynx, and esophagus (J:33712)
• epithelium of tongue, oral and nasal cavities, larynx, and esophagus (J:33712)

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




Genotype
MGI:3761291
hm2
Allelic
Composition
Itga6tm1Egl/Itga6tm1Egl
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Itga6tm1Egl mutation (0 available); any Itga6 mutation (163 available)
phenotype observed in females
phenotype observed in males
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 (J:119018)
• however, unlike in Lamc1tm1Umr homozygotes radial glial endfeet are present (J:119018)
• 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 (J:119018)
• however, unlike in Lamc1tm1Umr homozygotes radial glial endfeet are present (J:119018)

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 (J:119018)
• 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 (J:119018)




Genotype
MGI:2169730
cx3
Allelic
Composition
Itga3tm1Jak/Itga3tm1Jak
Itga6tm1Egl/Itga6tm1Egl
Genetic
Background
involves: 129S2/SvPas * 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Itga3tm1Jak mutation (0 available); any Itga3 mutation (13 available)
Itga6tm1Egl mutation (0 available); any Itga6 mutation (163 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• expected numbers survive through E16.5, but display multiple abnormalities (J:56564)
• expected numbers survive through E16.5, but display multiple abnormalities (J:56564)

growth/size/body
• growth retarded by E16.5 (J:56564)
• growth retarded by E16.5 (J:56564)

limbs/digits/tail
• barely detectable at E10.5 and E11.5 (J:56564)
• composed of a greater than normal number of smaller and less columnar cells (J:56564)
• decreased cell proliferation (J:56564)
• basal lamina in limbs is thinner and not always tightly apposed to epithelial cell membrane (J:56564)
• barely detectable at E10.5 and E11.5 (J:56564)
• composed of a greater than normal number of smaller and less columnar cells (J:56564)
• decreased cell proliferation (J:56564)
• basal lamina in limbs is thinner and not always tightly apposed to epithelial cell membrane (J:56564)
• carpal/metacarpal and tarsal/metatarsal abnormalities seen (J:56564)
• carpal/metacarpal and tarsal/metatarsal abnormalities seen (J:56564)
• occasional loss or atrophy of digits (J:56564)
• occasional loss or atrophy of digits (J:56564)
• no apoptosis in interdigital area of limbs at E13.5 but seen between digits 1 and 2 and between digits 4 and 5 (J:56564)
• 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) (J:56564)
• no apoptosis in interdigital area of limbs at E13.5 but seen between digits 1 and 2 and between digits 4 and 5 (J:56564)
• 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) (J:56564)
• irregularly shaped fore- and hindlimb footplates at E12.5 (J:56564)
• misshapen and lack of separation between digits apparent by E13.5 (J:56564)
• irregularly shaped fore- and hindlimb footplates at E12.5 (J:56564)
• misshapen and lack of separation between digits apparent by E13.5 (J:56564)

embryogenesis
• barely detectable at E10.5 and E11.5 (J:56564)
• composed of a greater than normal number of smaller and less columnar cells (J:56564)
• decreased cell proliferation (J:56564)
• basal lamina in limbs is thinner and not always tightly apposed to epithelial cell membrane (J:56564)
• barely detectable at E10.5 and E11.5 (J:56564)
• composed of a greater than normal number of smaller and less columnar cells (J:56564)
• decreased cell proliferation (J:56564)
• basal lamina in limbs is thinner and not always tightly apposed to epithelial cell membrane (J:56564)
• the vesical portion of the primitive urogenital sinus is missing (J:56564)
• the vesical portion of the primitive urogenital sinus is missing (J:56564)
• caudal portions of the Mullerian ducts are absent or interrupted (J:56564)
• caudal portions of the Mullerian ducts are absent or interrupted (J:56564)
• caudal portions of the Wolffian ducts are absent or interrupted (J:56564)
• in one fetus, the Wollfian duct is markedly dilated (J:56564)
• caudal portions of the Wolffian ducts are absent or interrupted (J:56564)
• in one fetus, the Wollfian duct is markedly dilated (J:56564)
• neural tube fails to close to varying degrees in 43% of mice (J:56564)
• neural tube fails to close to varying degrees in 43% of mice (J:56564)

nervous system
• neural tube fails to close to varying degrees in 43% of mice (J:56564)
• neural tube fails to close to varying degrees in 43% of mice (J:56564)
• severe disorganization of cerebral cortex (J:56564)
• severe disorganization of cerebral cortex (J:56564)

vision/eye
• large breaches in the anterior epithelium over the lens (J:56564)
• large breaches in the anterior epithelium over the lens (J:56564)
• drastically disorganized (J:56564)
• drastically disorganized (J:56564)
• drastically disorganized (J:56564)
• drastically disorganized (J:56564)
• massive ectopias into the vitreous body (J:56564)
• massive ectopias into the vitreous body (J:56564)

respiratory system
• left lung almost absent at E15.5 (J:56564)
• left lung almost absent at E15.5 (J:56564)
• terminal lung buds fewer and larger at E13.5 and E14.5 (J:56564)
• however, branching morphogenesis is not abolished, as terminal bronchi are present at E15.5 and E16.5 (J:56564)
• terminal lung buds fewer and larger at E13.5 and E14.5 (J:56564)
• however, branching morphogenesis is not abolished, as terminal bronchi are present at E15.5 and E16.5 (J:56564)
• at E15.5, the left lung is almost absent while the right lung is single-lobed (J:56564)
• at E15.5, the left lung is almost absent while the right lung is single-lobed (J:56564)
• bilateral lung hypoplasia (J:56564)
• bilateral lung hypoplasia (J:56564)
• right lung with only one lobe (J:56564)
• right lung with only one lobe (J:56564)

endocrine/exocrine glands
• hypoplasia (J:56564)
• hypoplasia (J:56564)

renal/urinary system
• partial or complete (J:56564)
• partial or complete (J:56564)
• genital folds fail to fuse resulting in agenesis of the phallic portion of the urethra (J:56564)
• genital folds fail to fuse resulting in agenesis of the phallic portion of the urethra (J:56564)
• urinary bladder fails to form (J:56564)
• urinary bladder fails to form (J:56564)

digestive/alimentary system
• caudal portion sometimes absent (J:56564)
• caudal portion sometimes absent (J:56564)

integument
• rupture of the surface epithelium in the distal parts of limbs by E13.5 (J:56564)
• rupture of the surface epithelium in the distal parts of limbs by E13.5 (J:56564)





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory