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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Irf6Gt(OST398253)Lex
gene trap OST398253, Lexicon Genetics
MGI:3522096
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Irf6Gt(OST398253)Lex/Irf6Gt(OST398253)Lex involves: 129S5/SvEvBrd MGI:4457065
hm2
Irf6Gt(OST398253)Lex/Irf6Gt(OST398253)Lex involves: 129S5/SvEvBrd * C57BL/6 MGI:3695051
ht3
Irf6Gt(OST398253)Lex/Irf6+ involves: 129S5/SvEvBrd * C57BL/6 MGI:5697285
cx4
Grhl3tm1Bogi/Grhl3+
Irf6Gt(OST398253)Lex/Irf6+
involves: 129S5/SvEvBrd * C57BL/6 * C57BL/6J MGI:5697287


Genotype
MGI:4457065
hm1
Allelic
Composition
Irf6Gt(OST398253)Lex/Irf6Gt(OST398253)Lex
Genetic
Background
involves: 129S5/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Irf6Gt(OST398253)Lex mutation (1 available); any Irf6 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• the palate shelves fail to elevate
• the palate shelves adhere completely to the tongue

digestive/alimentary system
• the palate shelves fail to elevate
• the palate shelves adhere completely to the tongue

integument
• abnormalities in size and shape of keratinocytes
• abnormalities in proliferation and differentiation of keratinocytes

growth/size/body
• the palate shelves fail to elevate
• the palate shelves adhere completely to the tongue




Genotype
MGI:3695051
hm2
Allelic
Composition
Irf6Gt(OST398253)Lex/Irf6Gt(OST398253)Lex
Genetic
Background
involves: 129S5/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Irf6Gt(OST398253)Lex mutation (1 available); any Irf6 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 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

embryo
• 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

skeleton
• shorter and more rounded jaw
• mandible is smaller with a narrower angle
• forepaws show absence of distal phalanges
• slightly shorter long bones
• xiphoid process is bifid demonstrating a failure of complete fusion of the thoracic cage
• shorter sternum with delayed ossification
• vertebrae are small and show delayed ossification
• forepaws display synostosis of digits
• delayed ossification of vertebrae and sternum

craniofacial
• shorter and more rounded jaw
• mandible is smaller with a narrower angle
• 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
• basal layer of the oral cavity is disorganized and thicker at E15.5
• all mice develop cleft palate
• cleft of the secondary palate
• shorter and more rounded snout
• shorter and more rounded snout
• lack external ears

limbs/digits/tail
• digits are severely abnormal
• forepaws show absence of distal phalanges
• short forelimbs
• short forelimbs

hearing/vestibular/ear
• lack external ears

digestive/alimentary system
• 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
• all mice develop cleft palate
• cleft of the secondary palate
• esophagus is closed

integument
• exhibit increased cell proliferation of keratinocytes in the spinous layer
• 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
• keratinocytes fail to terminally differentiate which contributes to the increased thickness of the spinous layer
• absent cornifed outer layer and electron-dense keratohyalin granules
• absent granular layer
• in the epidermis, the basal layer is present along with a greatly expanded spinous layer
• taut, shiny skin
• taut, shiny skin
• do not exhibit wrinkles in epidermis from E17.5 as are seen in wild-type

cellular
• keratinocytes fail to terminally differentiate which contributes to the increased thickness of the spinous layer
• exhibit increased cell proliferation of keratinocytes in the spinous layer

growth/size/body
• 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
• basal layer of the oral cavity is disorganized and thicker at E15.5
• all mice develop cleft palate
• cleft of the secondary palate
• shorter and more rounded snout
• shorter and more rounded snout
• lack external ears

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
popliteal pterygium syndrome DOID:0060055 OMIM:119500
OMIM:263650
J:115343




Genotype
MGI:5697285
ht3
Allelic
Composition
Irf6Gt(OST398253)Lex/Irf6+
Genetic
Background
involves: 129S5/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Irf6Gt(OST398253)Lex mutation (1 available); any Irf6 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• 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

embryo
• expression of Krt6, a marker for the periderm, is reduced, indicating loss of oral periderm cells




Genotype
MGI:5697287
cx4
Allelic
Composition
Grhl3tm1Bogi/Grhl3+
Irf6Gt(OST398253)Lex/Irf6+
Genetic
Background
involves: 129S5/SvEvBrd * C57BL/6 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grhl3tm1Bogi mutation (0 available); any Grhl3 mutation (50 available)
Irf6Gt(OST398253)Lex mutation (1 available); any Irf6 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than the expected numbers of mutants are seen at P21
• 12% rate of resorbing embryos

craniofacial
• 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

embryo
• 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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last database update
01/12/2022
MGI 6.17
The Jackson Laboratory