Phenotypes Associated with This Genotype

Genotype
MGI:3693809

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

• ♀: 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