Phenotypes Associated with This Genotype

Genotype
MGI:4457064

• Allelic Composition: Irf6^clft1/Irf6^clft1
• Genetic Background: involves: A/J * FVB

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

Palatal defects in Irf6^clft1/Irf6^clft1 mice

craniofacial

abnormal mouth morphology ( J:160190 )

• at E18.5, mouths cannot be opened unlike in wild-type mice

• at E18.5, the tongue adheres to the roof of the mouth unlike in wild-type mice

• at E18.5, mice exhibit aberrant epithelial adhesions throughout the oral cavity unlike wild-type mice

abnormal palatine bone horizontal plate morphology ( J:160190 )

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

• at E16.5, the tongue is fused to the palate shelves at the mid-palatal region unlike in wild-type mice

• at E16.5, inferior aspects of the anterior secondary palate are fused to the dorsal tongue unlike in wild-type mice

• however, mice exhibit normal elevation and fusion anteriorly

cleft secondary palate ( J:160190 )

• at E18.5, mice exhibit partial fusion of the palate shelves in the anterior or complete cleft of the secondary palate unlike wild-type mice

failure of palatal shelf elevation ( J:160190 )

• at E14.5, the palate shelves are not elevated and adhere to the sides of the tongue posteriorly while at the mid-palate region the shelves are elevated but tethered by epithelial fusion with the dorso-lateral tongue unlike in wild-type mice

glossopalatal ankylosis ( J:160190 )

• at E18.5, the tongue adheres to the roof of the mouth unlike in wild-type mice

skeleton

abnormal skeleton morphology ( J:160190 )

• between E16.5 and E18.5, 4 of 31 mice exhibit skeletal abnormalities compared with wild-type mice

abnormal palatine bone horizontal plate morphology ( J:160190 )

fused phalanges ( J:160190 )

• in 2 of 31 mice between E16.5 and E18.5 with fusion of elements of the third and fourth proximal and intermediate phalanges

limbs/digits/tail

syndactyly ( J:160190 )

• in 2 of 31 mice between E16.5 and E18.5 with fusion of elements of the third and fourth proximal and intermediate phalanges

fused phalanges ( J:160190 )

• in 2 of 31 mice between E16.5 and E18.5 with fusion of elements of the third and fourth proximal and intermediate phalanges

short forelimb ( J:160190 )

• between E16.5 and E18.5, 1 of 31 mice exhibits very short forelimbs and a curly tail unlike wild-type mice

abnormal hindlimb morphology ( J:160190 )

• between E16.5 and E18.5, 1 of 31 mice exhibits hindlimbs fused to the body unlike wild-type mice

curly tail ( J:160190 )

• between E16.5 and E18.5, 1 of 31 mice exhibits very short forelimbs and a curly tail unlike wild-type mice

digestive/alimentary system

abnormal palatine bone horizontal plate morphology ( J:160190 )

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

• at E16.5, the tongue is fused to the palate shelves at the mid-palatal region unlike in wild-type mice

• at E16.5, inferior aspects of the anterior secondary palate are fused to the dorsal tongue unlike in wild-type mice

• however, mice exhibit normal elevation and fusion anteriorly

cleft secondary palate ( J:160190 )

• at E18.5, mice exhibit partial fusion of the palate shelves in the anterior or complete cleft of the secondary palate unlike wild-type mice

failure of palatal shelf elevation ( J:160190 )

• at E14.5, the palate shelves are not elevated and adhere to the sides of the tongue posteriorly while at the mid-palate region the shelves are elevated but tethered by epithelial fusion with the dorso-lateral tongue unlike in wild-type mice

glossopalatal ankylosis ( J:160190 )

• at E18.5, the tongue adheres to the roof of the mouth unlike in wild-type mice

integument

delayed skin barrier formation ( J:160190 )

• at E17.5, mice exhibit variability in the formation of the ventral skin barrier compared with wild-type mice

• however, mice exhibit normal skin barrier function by E18.5

growth/size/body

abnormal mouth morphology ( J:160190 )

• at E18.5, mouths cannot be opened unlike in wild-type mice

• at E18.5, the tongue adheres to the roof of the mouth unlike in wild-type mice

• at E18.5, mice exhibit aberrant epithelial adhesions throughout the oral cavity unlike wild-type mice

abnormal palatine bone horizontal plate morphology ( J:160190 )

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

• at E16.5, the tongue is fused to the palate shelves at the mid-palatal region unlike in wild-type mice

• at E16.5, inferior aspects of the anterior secondary palate are fused to the dorsal tongue unlike in wild-type mice

• however, mice exhibit normal elevation and fusion anteriorly

cleft secondary palate ( J:160190 )

• at E18.5, mice exhibit partial fusion of the palate shelves in the anterior or complete cleft of the secondary palate unlike wild-type mice

failure of palatal shelf elevation ( J:160190 )

• at E14.5, the palate shelves are not elevated and adhere to the sides of the tongue posteriorly while at the mid-palate region the shelves are elevated but tethered by epithelial fusion with the dorso-lateral tongue unlike in wild-type mice

glossopalatal ankylosis ( J:160190 )

• at E18.5, the tongue adheres to the roof of the mouth unlike in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Van der Woude syndrome		DOID:0060239	OMIM:119300 OMIM:606713	J:160190