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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Irf6tm1Mjd
targeted mutation 1, Michael J Dixon
MGI:3693324
Summary 9 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Irf6tm1Mjd/Irf6tm1Mjd involves: 129S1/Sv * 129X1/SvJ MGI:4457066
hm2
Irf6tm1Mjd/Irf6tm1Mjd involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3693810
ht3
Irf6tm1Mjd/Irf6+ involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3693809
ht4
Irf6tm1Mjd/Irf6tm1Pts involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:5426893
cx5
Irf6tm1Mjd/Irf6tm1Mjd
Tg(KRT5-CHUK)#Rche/0
involves: 129S1/Sv * 129X1/SvJ MGI:5426896
cx6
Irf6tm1Mjd/Irf6+
SfnEr/SfnEr
involves: 129S1/Sv * 129X1/SvJ MGI:5426899
cx7
Irf6tm1Mjd/Irf6+
SfnEr/Sfn+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3693811
cx8
Chuktm1Mka/Chuktm1Mka
Irf6tm1Mjd/Irf6+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:5426902
cx9
Chuktm1Mka/Chuk+
Irf6tm1Mjd/Irf6tm1Mjd
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:5426904


Genotype
MGI:4457066
hm1
Allelic
Composition
Irf6tm1Mjd/Irf6tm1Mjd
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Irf6tm1Mjd mutation (0 available); any Irf6 mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• enlarged anterior incisors prematurely exposed to oral cavity
• incisor tooth germs lack connective tissue, alveolar bone, oral epithelium and dental lamina
• at E13.5, surface epithelium exhibits cobblestone-like cells unlike in wild-type mice
• incisor epithelium fail to invaginate into the underlying mesenchyme but rather evaginates
• 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

growth/size/body
• enlarged anterior incisors prematurely exposed to oral cavity
• incisor tooth germs lack connective tissue, alveolar bone, oral epithelium and dental lamina
• incisor epithelium fail to invaginate into the underlying mesenchyme but rather evaginates
• the palate shelves fail to elevate
• the palate shelves adhere completely to the tongue

skeleton
• enlarged anterior incisors prematurely exposed to oral cavity
• incisor tooth germs lack connective tissue, alveolar bone, oral epithelium and dental lamina
• incisor epithelium fail to invaginate into the underlying mesenchyme but rather evaginates




Genotype
MGI:3693810
hm2
Allelic
Composition
Irf6tm1Mjd/Irf6tm1Mjd
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)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes die shortly after birth

craniofacial
• mice have a foreshortened facial complex
• abnormal fusion between the epithelia covering the palatal shelves and the tongue
• secondary palate remains cleft

limbs/digits/tail
• mutants lack obvious digits
• mutants have truncated limbs; limbs appear rudimentary
• mutants have shortened tail

skeleton
• mice have a foreshortened facial complex

digestive/alimentary system
• abnormal fusion between the epithelia covering the palatal shelves and the tongue
• secondary palate remains cleft
• esophageal lumen is obliterated by adhesion of stratified squamous epithelium lining lumen

integument
• skin lacks mature hair follicles, but rudimentary follicles are present
• epidermis of mutants lack whiskers
• 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
• layer is denser than in wild-type
• layers are less differentiated, showing no evidence of granular or cornified layers; cells retain proliferative capacity
• nucleated keratinocytes are visible along surface of epidermis
• epidermis is thicker than wild-type but lacks defined regions
• homozygotes have abnormal, shiny skin at E16

growth/size/body
• abnormal fusion between the epithelia covering the palatal shelves and the tongue
• secondary palate remains cleft




Genotype
MGI:3693809
ht3
Allelic
Composition
Irf6tm1Mjd/Irf6+
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)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• only 37% (~50% expected) of live offspring of wild-type/heterozygous matings are heterozygous; adhesions prevent mouth opening, resulting in death immediately after birth

craniofacial
• 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

growth/size/body
• 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

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
popliteal pterygium syndrome DOID:0060055 OMIM:119500
OMIM:263650
J:116077




Genotype
MGI:5426893
ht4
Allelic
Composition
Irf6tm1Mjd/Irf6tm1Pts
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)
Irf6tm1Pts mutation (0 available); any Irf6 mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
N
• mice do not exhibit the evaginating incisor or adhesion of oral epithelium phenotypes observed in null mice




Genotype
MGI:5426896
cx5
Allelic
Composition
Irf6tm1Mjd/Irf6tm1Mjd
Tg(KRT5-CHUK)#Rche/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
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)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
N
• incisor phenotype and oral epithelial adhesion observed in null mice are rescued




Genotype
MGI:5426899
cx6
Allelic
Composition
Irf6tm1Mjd/Irf6+
SfnEr/SfnEr
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
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)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
N
• mice exhibit normal teeth and molar tooth germ




Genotype
MGI:3693811
cx7
Allelic
Composition
Irf6tm1Mjd/Irf6+
SfnEr/Sfn+
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)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• severe intraoral adhesions prevent opening of mouth at E17
• seen at E17

limbs/digits/tail
• affected pups show forepaw and hindpaw syndactyly
• at E17

digestive/alimentary system
• seen at E17
• fused esophagus is found at E17

integument
• at E17, affected pups have smooth skin
• epidermis is hyperproliferative
• areas of keratinization are frequently detected within and sometimes on surface of expanded suprabasal layers
• mutants have thickened epithelium resulting from expanded stratum spinosum; clearly defined stratum granulosum and stratum corneum do not form toward epidermal surface

growth/size/body
• severe intraoral adhesions prevent opening of mouth at E17
• seen at E17
• at E17, partial fusion of hindlimbs and tail to body wall is observed




Genotype
MGI:5426902
cx8
Allelic
Composition
Chuktm1Mka/Chuktm1Mka
Irf6tm1Mjd/Irf6+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
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)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• the evaginating incisor phenotype is neither attenuated or worsened compared with Chuktm1Mka homozygotes

growth/size/body
• the evaginating incisor phenotype is neither attenuated or worsened compared with Chuktm1Mka homozygotes

skeleton
• the evaginating incisor phenotype is neither attenuated or worsened compared with Chuktm1Mka homozygotes




Genotype
MGI:5426904
cx9
Allelic
Composition
Chuktm1Mka/Chuk+
Irf6tm1Mjd/Irf6tm1Mjd
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
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)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• the evaginating incisor phenotype is neither attenuated or worsened compared with Irf6tm1Mjd homozygotes

growth/size/body
• the evaginating incisor phenotype is neither attenuated or worsened compared with Irf6tm1Mjd homozygotes

skeleton
• the evaginating incisor phenotype is neither attenuated or worsened compared with Irf6tm1Mjd homozygotes





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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory