Phenotypes associated with this allele

• Allele Symbol: Irf6^tm1Mjd
• Allele Name: targeted mutation 1, Michael J Dixon
• Allele ID: MGI:3693324
• Summary: 9 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Irf6^tm1Mjd/Irf6^tm1Mjd	involves: 129S1/Sv * 129X1/SvJ	MGI:4457066
hm2	Irf6^tm1Mjd/Irf6^tm1Mjd	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3693810
ht3	Irf6^tm1Mjd/Irf6^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3693809
ht4	Irf6^tm1Mjd/Irf6^tm1Pts	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5426893
cx5	Irf6^tm1Mjd/Irf6^tm1Mjd Tg(KRT5-CHUK)#Rche/0	involves: 129S1/Sv * 129X1/SvJ	MGI:5426896
cx6	Irf6^tm1Mjd/Irf6^+ Sfn^Er/Sfn^Er	involves: 129S1/Sv * 129X1/SvJ	MGI:5426899
cx7	Irf6^tm1Mjd/Irf6^+ Sfn^Er/Sfn^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3693811
cx8	Chuk^tm1Mka/Chuk^tm1Mka Irf6^tm1Mjd/Irf6^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5426902
cx9	Chuk^tm1Mka/Chuk^+ Irf6^tm1Mjd/Irf6^tm1Mjd	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5426904

Genotype
MGI:4457066

hm1

• Allelic Composition: Irf6^tm1Mjd/Irf6^tm1Mjd
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

craniofacial

abnormal incisor morphology ( J:184926 )

• enlarged anterior incisors prematurely exposed to oral cavity

• incisor tooth germs lack connective tissue, alveolar bone, oral epithelium and dental lamina

abnormal craniofacial development ( J:184926 )

• at E13.5, surface epithelium exhibits cobblestone-like cells unlike in wild-type mice

abnormal tooth development ( J:184926 )

• incisor epithelium fail to invaginate into the underlying mesenchyme but rather evaginates

failure of palatal shelf elevation ( J:160190 )

• the palate shelves fail to elevate

palatal shelf fusion with tongue or mandible ( J:160190 )

• the palate shelves adhere completely to the tongue

digestive/alimentary system

failure of palatal shelf elevation ( J:160190 )

• the palate shelves fail to elevate

palatal shelf fusion with tongue or mandible ( J:160190 )

• the palate shelves adhere completely to the tongue

growth/size/body

abnormal incisor morphology ( J:184926 )

• enlarged anterior incisors prematurely exposed to oral cavity

• incisor tooth germs lack connective tissue, alveolar bone, oral epithelium and dental lamina

abnormal tooth development ( J:184926 )

• incisor epithelium fail to invaginate into the underlying mesenchyme but rather evaginates

failure of palatal shelf elevation ( J:160190 )

• the palate shelves fail to elevate

palatal shelf fusion with tongue or mandible ( J:160190 )

• the palate shelves adhere completely to the tongue

skeleton

abnormal incisor morphology ( J:184926 )

• enlarged anterior incisors prematurely exposed to oral cavity

• incisor tooth germs lack connective tissue, alveolar bone, oral epithelium and dental lamina

abnormal tooth development ( J:184926 )

• incisor epithelium fail to invaginate into the underlying mesenchyme but rather evaginates

Genotype
MGI:3693810

hm2

• Allelic Composition: Irf6^tm1Mjd/Irf6^tm1Mjd
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

postnatal lethality, complete penetrance ( J:116077 )

• homozygotes die shortly after birth

craniofacial

abnormal craniofacial bone morphology ( J:116077 )

• mice have a foreshortened facial complex

palatal shelf fusion with tongue or mandible ( J:116077 )

• abnormal fusion between the epithelia covering the palatal shelves and the tongue

cleft secondary palate ( J:116077 )

• secondary palate remains cleft

limbs/digits/tail

abnormal digit development ( J:116077 )

• mutants lack obvious digits

short limbs ( J:116077 )

• mutants have truncated limbs; limbs appear rudimentary

short tail ( J:116077 )

• mutants have shortened tail

skeleton

abnormal craniofacial bone morphology ( J:116077 )

• mice have a foreshortened facial complex

digestive/alimentary system

palatal shelf fusion with tongue or mandible ( J:116077 )

• abnormal fusion between the epithelia covering the palatal shelves and the tongue

cleft secondary palate ( J:116077 )

• secondary palate remains cleft

abnormal esophagus development ( J:116077 )

• esophageal lumen is obliterated by adhesion of stratified squamous epithelium lining lumen

integument

decreased hair follicle number ( J:116077 )

• skin lacks mature hair follicles, but rudimentary follicles are present

absent vibrissae ( J:116077 )

• epidermis of mutants lack whiskers

abnormal epidermal layer morphology ( J:116077 )

• 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

abnormal epidermis stratum basale morphology ( J:116077 )

• layer is denser than in wild-type

absent epidermis stratum corneum ( J:116077 )

absent epidermis stratum granulosum ( J:116077 )

abnormal epidermis suprabasal layer morphology ( J:116077 )

• layers are less differentiated, showing no evidence of granular or cornified layers; cells retain proliferative capacity

abnormal keratinocyte morphology ( J:116077 )

• nucleated keratinocytes are visible along surface of epidermis

thick epidermis ( J:116077 )

• epidermis is thicker than wild-type but lacks defined regions

shiny skin ( J:116077 )

• homozygotes have abnormal, shiny skin at E16

growth/size/body

palatal shelf fusion with tongue or mandible ( J:116077 )

• abnormal fusion between the epithelia covering the palatal shelves and the tongue

cleft secondary palate ( J:116077 )

• secondary palate remains cleft

Genotype
MGI:3693809

ht3

• Allelic Composition: Irf6^tm1Mjd/Irf6⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

neonatal lethality, incomplete penetrance ( J:116077 )

• 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

abnormal mouth morphology ( J:116077 )

• 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

abnormal mouth morphology ( J:116077 )

• 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: Irf6^tm1Mjd/Irf6^tm1Pts
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

craniofacial

craniofacial phenotype ( J:184926 )

N • mice do not exhibit the evaginating incisor or adhesion of oral epithelium phenotypes observed in null mice

Genotype
MGI:5426896

cx5

• Allelic Composition: Irf6^tm1Mjd/Irf6^tm1Mjd; Tg(KRT5-CHUK)#Rche/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

craniofacial

craniofacial phenotype ( J:184926 )

N • incisor phenotype and oral epithelial adhesion observed in null mice are rescued

Genotype
MGI:5426899

cx6

• Allelic Composition: Irf6^tm1Mjd/Irf6⁺; Sfn^Er/Sfn^Er
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

craniofacial

craniofacial phenotype ( J:184926 )

N • mice exhibit normal teeth and molar tooth germ

Genotype
MGI:3693811

cx7

• Allelic Composition: Irf6^tm1Mjd/Irf6⁺; Sfn^Er/Sfn⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

craniofacial

abnormal mouth morphology ( J:116077 )

• severe intraoral adhesions prevent opening of mouth at E17

cleft palate ( J:116077 )

• seen at E17

limbs/digits/tail

syndactyly ( J:116077 )

• affected pups show forepaw and hindpaw syndactyly

kinked tail ( J:116077 )

• at E17

digestive/alimentary system

cleft palate ( J:116077 )

• seen at E17

abnormal esophagus development ( J:116077 )

• fused esophagus is found at E17

integument

abnormal skin morphology ( J:116077 )

• at E17, affected pups have smooth skin

abnormal epidermal layer morphology ( J:116077 )

• epidermis is hyperproliferative

absent epidermis stratum corneum ( J:116077 )

absent epidermis stratum granulosum ( J:116077 )

thick epidermis stratum spinosum ( J:116077 )

abnormal epidermis suprabasal layer morphology ( J:116077 )

• areas of keratinization are frequently detected within and sometimes on surface of expanded suprabasal layers

thick epidermis ( J:116077 )

• 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

abnormal mouth morphology ( J:116077 )

• severe intraoral adhesions prevent opening of mouth at E17

cleft palate ( J:116077 )

• seen at E17

abnormal body wall morphology ( J:116077 )

• at E17, partial fusion of hindlimbs and tail to body wall is observed

Genotype
MGI:5426902

cx8

• Allelic Composition: Chuk^tm1Mka/Chuk^tm1Mka; Irf6^tm1Mjd/Irf6⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

craniofacial

abnormal incisor morphology ( J:184926 )

• the evaginating incisor phenotype is neither attenuated or worsened compared with Chuk^tm1Mka homozygotes

growth/size/body

abnormal incisor morphology ( J:184926 )

• the evaginating incisor phenotype is neither attenuated or worsened compared with Chuk^tm1Mka homozygotes

skeleton

abnormal incisor morphology ( J:184926 )

• the evaginating incisor phenotype is neither attenuated or worsened compared with Chuk^tm1Mka homozygotes

Genotype
MGI:5426904

cx9

• Allelic Composition: Chuk^tm1Mka/Chuk⁺; Irf6^tm1Mjd/Irf6^tm1Mjd
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

craniofacial

abnormal incisor morphology ( J:184926 )

• the evaginating incisor phenotype is neither attenuated or worsened compared with Irf6^tm1Mjd homozygotes

growth/size/body

abnormal incisor morphology ( J:184926 )

• the evaginating incisor phenotype is neither attenuated or worsened compared with Irf6^tm1Mjd homozygotes

skeleton

abnormal incisor morphology ( J:184926 )

• the evaginating incisor phenotype is neither attenuated or worsened compared with Irf6^tm1Mjd homozygotes