All Phenotypes Irf6<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Irf6⁺
wild type
MGI:2439164

Summary

6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	\Irf6^tm1Mjd/\Irf6⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3693809
ht2	\Irf6^{Gt(OST398253)Lex}/\Irf6⁺	involves: 129S5/SvEvBrd * C57BL/6	MGI:5697285
cx3	\Irf6^tm1Mjd/\Irf6⁺ \Sfn^Er/\Sfn^Er	involves: 129S1/Sv * 129X1/SvJ	MGI:5426899
cx4	\Chuk^tm1Mka/\Chuk^tm1Mka \Irf6^tm1Mjd/\Irf6⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5426902
cx5	\Irf6^tm1Mjd/\Irf6⁺ \Sfn^Er/\Sfn⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3693811
cx6	\Grhl3^tm1Bogi/\Grhl3⁺ \Irf6^{Gt(OST398253)Lex}/\Irf6⁺	involves: 129S5/SvEvBrd * C57BL/6 * C57BL/6J	MGI:5697287

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Irf6^tm1Mjd mutation (0 available); any Irf6 mutation (24 available)

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

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

Allelic Composition	\Irf6^{Gt(OST398253)Lex}/\Irf6⁺
Genetic Background	involves: 129S5/SvEvBrd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Irf6^{Gt(OST398253)Lex} mutation (1 available); any Irf6 mutation (24 available)

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

craniofacial

abnormal craniofacial development ( J:226218 )

• 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

abnormal periderm development ( J:226218 )

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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Irf6^tm1Mjd mutation (0 available); any Irf6 mutation (24 available)
Sfn^Er mutation (1 available); any Sfn mutation (13 available)

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

craniofacial

craniofacial phenotype ( J:184926 )

N	• mice exhibit normal teeth and molar tooth germ

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chuk^tm1Mka mutation (0 available); any Chuk mutation (51 available)
Irf6^tm1Mjd mutation (0 available); any Irf6 mutation (24 available)

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

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

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

Find Mice

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

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

Allelic Composition	\Grhl3^tm1Bogi/\Grhl3⁺ \Irf6^{Gt(OST398253)Lex}/\Irf6⁺
Genetic Background	involves: 129S5/SvEvBrd * C57BL/6 * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grhl3^tm1Bogi mutation (0 available); any Grhl3 mutation (53 available)
Irf6^{Gt(OST398253)Lex} mutation (1 available); any Irf6 mutation (24 available)

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:226218 )

• fewer than the expected numbers of mutants are seen at P21

prenatal lethality, incomplete penetrance ( J:226218 )

• 12% rate of resorbing embryos

craniofacial

abnormal craniofacial development ( J:226218 )

• 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

abnormal periderm development ( J:226218 )

• 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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