Phenotypes Associated with This Genotype

Genotype
MGI:3693811

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

• ♀: 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