Phenotypes Associated with This Genotype

Genotype
MGI:3695051

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

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

mortality/aging

perinatal lethality, complete penetrance ( J:94918 )

• embryos appear to be alive at E17.5, however none are found after birth, suggesting that mutants die during embryonic development after E17.5 or are devoured by mothers shortly after birth

embryo

abnormal periderm development ( J:226218 )

• expression of Krt6 and activated Notch 1, markers for the periderm, are reduced in the epithelium superficial to the tooth germs, indicating impaired development of the oral periderm

skeleton

abnormal cranium morphology ( J:115343 )

absent presphenoid bone ( J:115343 )

abnormal jaw morphology ( J:115343 )

• shorter and more rounded jaw

abnormal mandibular angle morphology ( J:115343 )

• mandible is smaller with a narrower angle

small mandible ( J:115343 )

abnormal phalanx morphology ( J:115343 )

• forepaws show absence of distal phalanges

decreased length of long bones ( J:115343 )

• slightly shorter long bones

split xiphoid process ( J:115343 )

• xiphoid process is bifid demonstrating a failure of complete fusion of the thoracic cage

short sternum ( J:115343 )

• shorter sternum with delayed ossification

small vertebrae ( J:115343 )

• vertebrae are small and show delayed ossification

synostosis ( J:115343 )

• forepaws display synostosis of digits

delayed bone ossification ( J:115343 )

• delayed ossification of vertebrae and sternum

craniofacial

abnormal cranium morphology ( J:115343 )

absent presphenoid bone ( J:115343 )

abnormal jaw morphology ( J:115343 )

• shorter and more rounded jaw

abnormal mandibular angle morphology ( J:115343 )

• mandible is smaller with a narrower angle

small mandible ( J:115343 )

abnormal palate development ( J:226218 )

• all E15.5 fetuses have extensive epithelial adhesions between the palatal shelves and the lingual, mandibular, and maxillary surfaces preventing the palatal shelves from elevating and leading to cleft palate

• the medial edge epithelium located at the medial edge of the palatal shelves does not dissolve to form a confluent bridge of mesenchymal cells across the palate by E15.5 as in wild-type mice

abnormal oral cavity morphology ( J:226218 )

• basal layer of the oral cavity is disorganized and thicker at E15.5

cleft palate ( J:226218 )

• all mice develop cleft palate

cleft secondary palate ( J:115343 )

• cleft of the secondary palate

round snout ( J:115343 )

• shorter and more rounded snout

short snout ( J:115343 )

• shorter and more rounded snout

absent outer ear ( J:115343 )

• lack external ears

limbs/digits/tail

abnormal digit morphology ( J:115343 )

• digits are severely abnormal

abnormal phalanx morphology ( J:115343 )

• forepaws show absence of distal phalanges

short forelimb ( J:115343 )

• short forelimbs

short tail ( J:115343 )

hearing/vestibular/ear

absent outer ear ( J:115343 )

• lack external ears

digestive/alimentary system

abnormal palate development ( J:226218 )

• all E15.5 fetuses have extensive epithelial adhesions between the palatal shelves and the lingual, mandibular, and maxillary surfaces preventing the palatal shelves from elevating and leading to cleft palate

• the medial edge epithelium located at the medial edge of the palatal shelves does not dissolve to form a confluent bridge of mesenchymal cells across the palate by E15.5 as in wild-type mice

cleft palate ( J:226218 )

• all mice develop cleft palate

cleft secondary palate ( J:115343 )

• cleft of the secondary palate

abnormal esophagus morphology ( J:115343 )

• esophagus is closed

integument

increased keratinocyte proliferation ( J:115343 )

• exhibit increased cell proliferation of keratinocytes in the spinous layer

abnormal epidermal layer morphology ( J:115343 )

• lack a normal stratified epidermis

• desmosomes are seen throughout the epidermis, including the most superficial regions where they normally do not occur

• exhibit epidermal adhesions at several sites, including the oral cavity, between the tail and hindlimbs, and in the esophagous

abnormal keratinocyte differentiation ( J:115343 )

• keratinocytes fail to terminally differentiate which contributes to the increased thickness of the spinous layer

absent epidermis stratum corneum ( J:115343 )

• absent cornifed outer layer and electron-dense keratohyalin granules

absent epidermis stratum granulosum ( J:115343 )

• absent granular layer

abnormal epidermis stratum spinosum morphology ( J:115343 )

• in the epidermis, the basal layer is present along with a greatly expanded spinous layer

thick epidermis ( J:115343 )

shiny skin ( J:115343 )

• taut, shiny skin

tight skin ( J:115343 )

• taut, shiny skin

• do not exhibit wrinkles in epidermis from E17.5 as are seen in wild-type

cellular

abnormal keratinocyte differentiation ( J:115343 )

• keratinocytes fail to terminally differentiate which contributes to the increased thickness of the spinous layer

increased keratinocyte proliferation ( J:115343 )

• exhibit increased cell proliferation of keratinocytes in the spinous layer

growth/size/body

abnormal palate development ( J:226218 )

• all E15.5 fetuses have extensive epithelial adhesions between the palatal shelves and the lingual, mandibular, and maxillary surfaces preventing the palatal shelves from elevating and leading to cleft palate

• the medial edge epithelium located at the medial edge of the palatal shelves does not dissolve to form a confluent bridge of mesenchymal cells across the palate by E15.5 as in wild-type mice

abnormal oral cavity morphology ( J:226218 )

• basal layer of the oral cavity is disorganized and thicker at E15.5

cleft palate ( J:226218 )

• all mice develop cleft palate

cleft secondary palate ( J:115343 )

• cleft of the secondary palate

round snout ( J:115343 )

• shorter and more rounded snout

short snout ( J:115343 )

• shorter and more rounded snout

absent outer ear ( J:115343 )

• lack external ears

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
popliteal pterygium syndrome		DOID:0060055	OMIM:119500 OMIM:263650	J:115343