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Phenotypes Associated with This Genotype
Genotype
MGI:7336829
Allelic
Composition
Ankrd11tm1c(EUCOMM)Wtsi/Ankrd11+
E2f1Tg(Wnt1-cre)2Sor/E2f1+
Genetic
Background
involves: C3H * C57BL/6 * C57BL/6N
Cell Lines EPD0678_1_F03
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ankrd11tm1c(EUCOMM)Wtsi mutation (0 available); any Ankrd11 mutation (123 available)
E2f1Tg(Wnt1-cre)2Sor mutation (2 available); any E2f1 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• open posterior frontal suture
• calvarial defect surrounding the posterior frontal suture
• persistent anterior fontanelle
• hard tissue anomalies in frontal bone
• 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
• expanded cranial vault
• variable position of the mandible with respect to the skull (excluded from analysis)
• reduced facial width
• reduced midfacial width
• mild midfacial hypoplasia
• hypoplasia of the nasal region

skeleton
• open posterior frontal suture
• calvarial defect surrounding the posterior frontal suture
• persistent anterior fontanelle
• hard tissue anomalies in frontal bone
• 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
• expanded cranial vault
• variable position of the mandible with respect to the skull (excluded from analysis)

growth/size/body
• reduced facial width
• reduced midfacial width
• mild midfacial hypoplasia
• hypoplasia of the nasal region

respiratory system
• hypoplasia of the nasal region

mortality/aging
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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory