Phenotypes Associated with This Genotype

Genotype
MGI:5754729

• Allelic Composition: Tg(ACTB-Edn1)1416Clou/0; E2f1^{Tg(Wnt1-cre)2Sor}/E2f1⁺
• Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

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

craniofacial

abnormal Meckel's cartilage morphology ( J:221133 )

• duplication of the Meckel's cartilage

temporal bone squamous part hypoplasia ( J:221133 )

• hypoplastic squamosal bone

abnormal mandibular angle morphology ( J:221133 )

• the condylar and angular processes are duplicated

absent mandibular coronoid process ( J:221133 )

• loss of the coronoid process

upper jaw to lower jaw transformation ( J:221133 )

• transformation of the maxilla into a mandible-like structure

palatine bone hypoplasia ( J:221133 )

malleus hypoplasia ( J:221133 )

midline facial cleft ( J:221133 )

• 70% of mutants exhibit a large mid-facial cleft; cleft does not affect the transformation of the maxilla

growth/size/body

palatine bone hypoplasia ( J:221133 )

midline facial cleft ( J:221133 )

• 70% of mutants exhibit a large mid-facial cleft; cleft does not affect the transformation of the maxilla

hearing/vestibular/ear

malleus hypoplasia ( J:221133 )

tympanic ring hypoplasia ( J:221133 )

• hypoplastic tympanic ring

skeleton

abnormal Meckel's cartilage morphology ( J:221133 )

• duplication of the Meckel's cartilage

temporal bone squamous part hypoplasia ( J:221133 )

• hypoplastic squamosal bone

abnormal mandibular angle morphology ( J:221133 )

• the condylar and angular processes are duplicated

absent mandibular coronoid process ( J:221133 )

• loss of the coronoid process

upper jaw to lower jaw transformation ( J:221133 )

• transformation of the maxilla into a mandible-like structure

palatine bone hypoplasia ( J:221133 )

malleus hypoplasia ( J:221133 )

ectopic cartilage ( J:221133 )

• the middle ear is composed of a large piece of ectopic cartilage

digestive/alimentary system

palatine bone hypoplasia ( J:221133 )