Phenotypes Associated with This Genotype

Genotype
MGI:7336829

• Allelic Composition: Ankrd11^{tm1c(EUCOMM)Wtsi}/Ankrd11⁺; E2f1^{Tg(Wnt1-cre)2Sor}/E2f1⁺
• Genetic Background: involves: C3H * C57BL/6 * C57BL/6N
• Cell Lines: EPD0678_1_F03

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

craniofacial

wide metopic suture ( J:306391 )

• open posterior frontal suture

abnormal neurocranium morphology ( J:306391 )

• calvarial defect surrounding the posterior frontal suture

large anterior fontanelle ( J:306391 )

• persistent anterior fontanelle

abnormal frontal bone morphology ( J:306391 )

• hard tissue anomalies in frontal bone

abnormal pterygoid bone morphology ( J:306391 )

• slight change in pterygoid bone morphology seen in ortho-slices anterior to the coronal suture; angle of the medial aspect of the pterygoid bone relative to the ventrolateral is altered

enlarged neurocranium ( J:306391 )

• expanded cranial vault

abnormal mandible morphology ( J:306391 )

• variable position of the mandible with respect to the skull (excluded from analysis)

narrow face ( J:306391 )

• reduced facial width

abnormal midface morphology ( J:306391 )

• reduced midfacial width

midface hypoplasia ( J:306391 )

• mild midfacial hypoplasia

abnormal nose morphology ( J:306391 )

• hypoplasia of the nasal region

skeleton

wide metopic suture ( J:306391 )

• open posterior frontal suture

abnormal neurocranium morphology ( J:306391 )

• calvarial defect surrounding the posterior frontal suture

large anterior fontanelle ( J:306391 )

• persistent anterior fontanelle

abnormal frontal bone morphology ( J:306391 )

• hard tissue anomalies in frontal bone

abnormal pterygoid bone morphology ( J:306391 )

• slight change in pterygoid bone morphology seen in ortho-slices anterior to the coronal suture; angle of the medial aspect of the pterygoid bone relative to the ventrolateral is altered

enlarged neurocranium ( J:306391 )

• expanded cranial vault

abnormal mandible morphology ( J:306391 )

• variable position of the mandible with respect to the skull (excluded from analysis)

growth/size/body

abnormal frontal bone morphology ( J:306391 )

• hard tissue anomalies in frontal bone

abnormal mandible morphology ( J:306391 )

• variable position of the mandible with respect to the skull (excluded from analysis)

narrow face ( J:306391 )

• reduced facial width

abnormal midface morphology ( J:306391 )

• reduced midfacial width

midface hypoplasia ( J:306391 )

• mild midfacial hypoplasia

abnormal nose morphology ( J:306391 )

• hypoplasia of the nasal region

respiratory system

abnormal nose morphology ( J:306391 )

• hypoplasia of the nasal region

mortality/aging

mortality/aging ( J:306391 )

N • mice survive into adulthood

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
KBG syndrome		DOID:14780	OMIM:148050	J:306391