Phenotypes associated with this allele
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Irf6Gt(OST398253)Lex mutation
(1 available);
any
Irf6 mutation
(26 available)
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craniofacial
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• the palate shelves fail to elevate
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• the palate shelves adhere completely to the tongue
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digestive/alimentary system
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• the palate shelves fail to elevate
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• the palate shelves adhere completely to the tongue
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integument
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• abnormalities in size and shape of keratinocytes
• abnormalities in proliferation and differentiation of keratinocytes
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growth/size/body
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• the palate shelves fail to elevate
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• the palate shelves adhere completely to the tongue
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Irf6Gt(OST398253)Lex mutation
(1 available);
any
Irf6 mutation
(26 available)
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mortality/aging
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• embryos appear to be alive at E17.5, however none are found after birth, suggesting that mutants die during embryonic development after E17.5 or are devoured by mothers shortly after birth
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embryo
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• expression of Krt6 and activated Notch 1, markers for the periderm, are reduced in the epithelium superficial to the tooth germs, indicating impaired development of the oral periderm
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skeleton
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• shorter and more rounded jaw
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• mandible is smaller with a narrower angle
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• forepaws show absence of distal phalanges
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• slightly shorter long bones
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• xiphoid process is bifid demonstrating a failure of complete fusion of the thoracic cage
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• shorter sternum with delayed ossification
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• vertebrae are small and show delayed ossification
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• forepaws display synostosis of digits
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• delayed ossification of vertebrae and sternum
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craniofacial
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• shorter and more rounded jaw
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• mandible is smaller with a narrower angle
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• all E15.5 fetuses have extensive epithelial adhesions between the palatal shelves and the lingual, mandibular, and maxillary surfaces preventing the palatal shelves from elevating and leading to cleft palate
• the medial edge epithelium located at the medial edge of the palatal shelves does not dissolve to form a confluent bridge of mesenchymal cells across the palate by E15.5 as in wild-type mice
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• basal layer of the oral cavity is disorganized and thicker at E15.5
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• all mice develop cleft palate
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• cleft of the secondary palate
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• shorter and more rounded snout
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• shorter and more rounded snout
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limbs/digits/tail
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• digits are severely abnormal
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• forepaws show absence of distal phalanges
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hearing/vestibular/ear
digestive/alimentary system
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• all E15.5 fetuses have extensive epithelial adhesions between the palatal shelves and the lingual, mandibular, and maxillary surfaces preventing the palatal shelves from elevating and leading to cleft palate
• the medial edge epithelium located at the medial edge of the palatal shelves does not dissolve to form a confluent bridge of mesenchymal cells across the palate by E15.5 as in wild-type mice
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• all mice develop cleft palate
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• cleft of the secondary palate
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integument
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• exhibit increased cell proliferation of keratinocytes in the spinous layer
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• lack a normal stratified epidermis
• desmosomes are seen throughout the epidermis, including the most superficial regions where they normally do not occur
• exhibit epidermal adhesions at several sites, including the oral cavity, between the tail and hindlimbs, and in the esophagous
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• keratinocytes fail to terminally differentiate which contributes to the increased thickness of the spinous layer
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• absent cornifed outer layer and electron-dense keratohyalin granules
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• in the epidermis, the basal layer is present along with a greatly expanded spinous layer
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• taut, shiny skin
• do not exhibit wrinkles in epidermis from E17.5 as are seen in wild-type
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cellular
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• keratinocytes fail to terminally differentiate which contributes to the increased thickness of the spinous layer
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• exhibit increased cell proliferation of keratinocytes in the spinous layer
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growth/size/body
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• all E15.5 fetuses have extensive epithelial adhesions between the palatal shelves and the lingual, mandibular, and maxillary surfaces preventing the palatal shelves from elevating and leading to cleft palate
• the medial edge epithelium located at the medial edge of the palatal shelves does not dissolve to form a confluent bridge of mesenchymal cells across the palate by E15.5 as in wild-type mice
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• basal layer of the oral cavity is disorganized and thicker at E15.5
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• all mice develop cleft palate
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• cleft of the secondary palate
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• shorter and more rounded snout
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• shorter and more rounded snout
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Irf6Gt(OST398253)Lex mutation
(1 available);
any
Irf6 mutation
(26 available)
|
|
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craniofacial
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• bilateral oral adhesions (which have a loss of periderm) at the tooth germ sites are seen at E13.5
• oral adhesions occur most frequently between the mandible and maxilla
• expression of p63 is reduced, indicating loss of basal epithelial cells at sites of the oral fusions
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embryo
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• expression of Krt6, a marker for the periderm, is reduced, indicating loss of oral periderm cells
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grhl3tm1Bogi mutation
(0 available);
any
Grhl3 mutation
(53 available)
Irf6Gt(OST398253)Lex mutation
(1 available);
any
Irf6 mutation
(26 available)
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mortality/aging
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• fewer than the expected numbers of mutants are seen at P21
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• 12% rate of resorbing embryos
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craniofacial
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• oral adhesions at areas superficial to the tooth germ and oral adhesions (which have a loss of periderm) and fusions (which have a loss of both the periderm and the basal epithelial layers) posterior to the tooth germ
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embryo
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• expression of Krt6, a marker for the periderm, is reduced more than in either single heterozygote, indicating loss of oral periderm cells
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