Phenotypes Associated with This Genotype

Genotype
MGI:3693810

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

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

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