Phenotypes associated with this allele
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Irf6tm1Mjd mutation
(0 available);
any
Irf6 mutation
(26 available)
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craniofacial
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• enlarged anterior incisors prematurely exposed to oral cavity
• incisor tooth germs lack connective tissue, alveolar bone, oral epithelium and dental lamina
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• at E13.5, surface epithelium exhibits cobblestone-like cells unlike in wild-type mice
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• incisor epithelium fail to invaginate into the underlying mesenchyme but rather evaginates
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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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growth/size/body
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• enlarged anterior incisors prematurely exposed to oral cavity
• incisor tooth germs lack connective tissue, alveolar bone, oral epithelium and dental lamina
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• incisor epithelium fail to invaginate into the underlying mesenchyme but rather evaginates
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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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skeleton
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• enlarged anterior incisors prematurely exposed to oral cavity
• incisor tooth germs lack connective tissue, alveolar bone, oral epithelium and dental lamina
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• incisor epithelium fail to invaginate into the underlying mesenchyme but rather evaginates
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Irf6tm1Mjd mutation
(0 available);
any
Irf6 mutation
(26 available)
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mortality/aging
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• homozygotes die shortly after birth
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craniofacial
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• mice have a foreshortened facial complex
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• abnormal fusion between the epithelia covering the palatal shelves and the tongue
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• secondary palate remains cleft
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limbs/digits/tail
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• mutants lack obvious digits
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• mutants have truncated limbs; limbs appear rudimentary
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• mutants have shortened tail
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skeleton
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• mice have a foreshortened facial complex
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digestive/alimentary system
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• abnormal fusion between the epithelia covering the palatal shelves and the tongue
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• secondary palate remains cleft
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• esophageal lumen is obliterated by adhesion of stratified squamous epithelium lining lumen
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integument
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• skin lacks mature hair follicles, but rudimentary follicles are present
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• epidermis of mutants lack whiskers
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• epidermis lacks normal wrinkled appearance; epidermis lacks keratinization at E16
• differentiation of epidermal layer is abnormal, with absent granular and cornified layers
• hindlimbs, tail and body of mutants are fused together by a thickened epidermis at E16
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• layer is denser than in wild-type
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• layers are less differentiated, showing no evidence of granular or cornified layers; cells retain proliferative capacity
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• nucleated keratinocytes are visible along surface of epidermis
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• epidermis is thicker than wild-type but lacks defined regions
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• homozygotes have abnormal, shiny skin at E16
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growth/size/body
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• abnormal fusion between the epithelia covering the palatal shelves and the tongue
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• secondary palate remains cleft
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Allelic Composition |
Irf6tm1Mjd/Irf6+
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Genetic Background |
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 |
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Irf6tm1Mjd mutation
(0 available);
any
Irf6 mutation
(26 available)
|
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mortality/aging
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• only 37% (~50% expected) of live offspring of wild-type/heterozygous matings are heterozygous; adhesions prevent mouth opening, resulting in death immediately after birth
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craniofacial
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• 89% of E12-E16 mice examined have mild intraoral adhesions between epithelia of mouth floor and ventral surface of tongue
• similar adhesions are observed between maxilla and mandible in molar tooth germ region
• most adhesions break after development of spontaneous oral movements, in severely affected mice, death after birth results; severely affected mice show multiple intraoral adhesions
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growth/size/body
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• 89% of E12-E16 mice examined have mild intraoral adhesions between epithelia of mouth floor and ventral surface of tongue
• similar adhesions are observed between maxilla and mandible in molar tooth germ region
• most adhesions break after development of spontaneous oral movements, in severely affected mice, death after birth results; severely affected mice show multiple intraoral adhesions
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Irf6tm1Mjd mutation
(0 available);
any
Irf6 mutation
(26 available)
Irf6tm1Pts mutation
(0 available);
any
Irf6 mutation
(26 available)
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craniofacial
N |
• mice do not exhibit the evaginating incisor or adhesion of oral epithelium phenotypes observed in null mice
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Irf6tm1Mjd mutation
(0 available);
any
Irf6 mutation
(26 available)
Tg(KRT5-CHUK)#Rche mutation
(0 available)
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craniofacial
N |
• incisor phenotype and oral epithelial adhesion observed in null mice are rescued
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Irf6tm1Mjd mutation
(0 available);
any
Irf6 mutation
(26 available)
SfnEr mutation
(1 available);
any
Sfn mutation
(13 available)
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craniofacial
N |
• mice exhibit normal teeth and molar tooth germ
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Allelic Composition |
Irf6tm1Mjd/Irf6+ SfnEr/Sfn+
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Genetic Background |
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 |
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Irf6tm1Mjd mutation
(0 available);
any
Irf6 mutation
(26 available)
SfnEr mutation
(1 available);
any
Sfn mutation
(13 available)
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craniofacial
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• severe intraoral adhesions prevent opening of mouth at E17
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limbs/digits/tail
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• affected pups show forepaw and hindpaw syndactyly
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digestive/alimentary system
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• fused esophagus is found at E17
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integument
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• at E17, affected pups have smooth skin
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• epidermis is hyperproliferative
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• areas of keratinization are frequently detected within and sometimes on surface of expanded suprabasal layers
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• mutants have thickened epithelium resulting from expanded stratum spinosum; clearly defined stratum granulosum and stratum corneum do not form toward epidermal surface
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growth/size/body
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• severe intraoral adhesions prevent opening of mouth at E17
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• at E17, partial fusion of hindlimbs and tail to body wall is observed
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chuktm1Mka mutation
(0 available);
any
Chuk mutation
(48 available)
Irf6tm1Mjd mutation
(0 available);
any
Irf6 mutation
(26 available)
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craniofacial
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• the evaginating incisor phenotype is neither attenuated or worsened compared with Chuktm1Mka homozygotes
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growth/size/body
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• the evaginating incisor phenotype is neither attenuated or worsened compared with Chuktm1Mka homozygotes
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skeleton
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• the evaginating incisor phenotype is neither attenuated or worsened compared with Chuktm1Mka homozygotes
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chuktm1Mka mutation
(0 available);
any
Chuk mutation
(48 available)
Irf6tm1Mjd mutation
(0 available);
any
Irf6 mutation
(26 available)
|
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craniofacial
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• the evaginating incisor phenotype is neither attenuated or worsened compared with Irf6tm1Mjd homozygotes
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growth/size/body
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• the evaginating incisor phenotype is neither attenuated or worsened compared with Irf6tm1Mjd homozygotes
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skeleton
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• the evaginating incisor phenotype is neither attenuated or worsened compared with Irf6tm1Mjd homozygotes
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