Phenotypes associated with this allele

• Allele Symbol: Itga6^tm1Egl
• Allele Name: targeted mutation 1, Elisabeth Georges-Labouesse
• Allele ID: MGI:1857793
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Itga6^tm1Egl/Itga6^tm1Egl	either: (involves: 129S2/SvPas * C57BL/6) or (involves: 129S2/SvPas * C57BL/6 * CD-1)	MGI:3583788
hm2	Itga6^tm1Egl/Itga6^tm1Egl	involves: 129S2/SvPas * C57BL/6	MGI:3761291
cx3	Itga3^tm1Jak/Itga3^tm1Jak Itga6^tm1Egl/Itga6^tm1Egl	involves: 129S2/SvPas * 129S4/SvJae	MGI:2169730

Genotype
MGI:3583788

hm1

• 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

Genotype
MGI:3761291

hm2

• Allelic Composition: Itga6^tm1Egl/Itga6^tm1Egl
• Genetic Background: involves: 129S2/SvPas * C57BL/6

nervous system

abnormal cerebral cortex morphology ( 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

• however, unlike in Lamc1^tm1Umr homozygotes radial glial endfeet are present

cellular

abnormal basement membrane morphology ( 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

Genotype
MGI:2169730

cx3

• Allelic Composition: Itga3^tm1Jak/Itga3^tm1Jak; Itga6^tm1Egl/Itga6^tm1Egl
• Genetic Background: involves: 129S2/SvPas * 129S4/SvJae

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:56564 )

• expected numbers survive through E16.5, but display multiple abnormalities

growth/size/body

fetal growth retardation ( J:56564 )

• growth retarded by E16.5

limbs/digits/tail

abnormal apical ectodermal ridge morphology ( J:56564 )

• 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

abnormal autopod morphology ( J:56564 )

• carpal/metacarpal and tarsal/metatarsal abnormalities seen

oligodactyly ( J:56564 )

• occasional loss or atrophy of digits

syndactyly ( 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

• 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)

abnormal digit development ( J:56564 )

• irregularly shaped fore- and hindlimb footplates at E12.5

• misshapen and lack of separation between digits apparent by E13.5

embryo

abnormal primitive urogenital sinus morphology ( J:56564 )

• the vesical portion of the primitive urogenital sinus is missing

abnormal apical ectodermal ridge morphology ( J:56564 )

• 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

abnormal Mullerian duct morphology ( J:56564 )

• caudal portions of the Mullerian ducts are absent or interrupted

abnormal Wolffian duct morphology ( J:56564 )

• caudal portions of the Wolffian ducts are absent or interrupted

• in one fetus, the Wollfian duct is markedly dilated

abnormal neural tube closure ( J:56564 )

• neural tube fails to close to varying degrees in 43% of mice

nervous system

abnormal neural tube closure ( J:56564 )

• neural tube fails to close to varying degrees in 43% of mice

abnormal choroid plexus morphology ( J:56564 )

abnormal stratification in cerebral cortex ( J:56564 )

• severe disorganization of cerebral cortex

vision/eye

abnormal lens epithelium morphology ( J:56564 )

• large breaches in the anterior epithelium over the lens

disorganized retina ganglion layer ( J:56564 )

• drastically disorganized

abnormal retina nerve fiber layer morphology ( J:56564 )

• drastically disorganized

abnormal vitreous body morphology ( J:56564 )

• massive ectopias into the vitreous body

respiratory system

abnormal left lung morphology ( J:56564 )

• left lung almost absent at E15.5

impaired branching involved in terminal bronchiole morphogenesis ( J:56564 )

• 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

impaired lung lobe morphogenesis ( J:56564 )

• at E15.5, the left lung is almost absent while the right lung is single-lobed

pulmonary hypoplasia ( J:56564 )

• bilateral lung hypoplasia

abnormal right lung morphology ( J:56564 )

• right lung with only one lobe

endocrine/exocrine glands

pancreas hypoplasia ( J:56564 )

• hypoplasia

renal/urinary system

absent ureter ( J:56564 )

• partial or complete

urethra atresia ( J:56564 )

• genital folds fail to fuse resulting in agenesis of the phallic portion of the urethra

absent urinary bladder ( J:56564 )

• urinary bladder fails to form

digestive/alimentary system

abnormal rectum morphology ( J:56564 )

• caudal portion sometimes absent

integument

abnormal epidermal layer morphology ( J:56564 )

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