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Phenotypes Associated with This Genotype
Genotype
MGI:3619802
Allelic
Composition
Tbx1tm2.1Bem/Tbx1tm2.2Bem
Foxg1tm1(cre)Skm/Foxg1+
Genetic
Background
involves: 129 * C57BL/6J * SJL * Swiss Webster
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxg1tm1(cre)Skm mutation (2 available); any Foxg1 mutation (3 available)
Tbx1tm2.1Bem mutation (0 available); any Tbx1 mutation (11 available)
Tbx1tm2.2Bem mutation (0 available); any Tbx1 mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice do not survive beyond the neonatal period (J:105980)
• mutants die between E18.5 and E20.5 with multiple defects of the pharyngeal apparatus (J:109536)

homeostasis/metabolism
• at E17.5, mutants appear edematous

craniofacial
• at E17.5, mutants display severe malformations of craniofacial bone structures
• at E17.5, mutants display fused basisphenoid and basioccipital bones (J:109536)
• zygomatic arch is missing
• hyoid bone is hypoplastic
• mandible is shorter than in wild-type
• middle ear is absent (J:105980)
• at E15.5-E17.5, middle ear ossicles do not start the condensation process and thus fail to develop (J:109536)
• in conditional mutants, the masseter muscle is absent
• in conditional mutants, pterygoid muscles are absent
• observed at E17.5 (J:105980)
• at E17.5, mutants exhibit cleft palate (J:109536)
• at E15.5-E17.5, the pinnae do not start the condensation process and thus fail to develop (J:109536)

hearing/vestibular/ear
• at E15.5-E17.5, the pinnae do not start the condensation process and thus fail to develop (J:109536)
• at E10.5 or later
• early otic vesicle development is normal; however, the structure is slightly hypoplastic by E10.5 and appears cystic at E17.5
• in contrast, periotic mesenchyme development appears normal
• at E17.5, mutants display a cystic endolymphatic duct
• at E17.5, the otic capsule is hypoplastic
• at E17.5, mutants show complete aplasia of inner ear sensory organs
• at E17.5, mutants exhibit severe hypoplasia of the inner ear, developing only a cystic OV and endolymphatic duct
• at E10.5, the pharyngeal endoderm fails to invaginate toward the surface endoderm to form the tubotympanic recess, resulting in disruption of middle ear development
• middle ear is absent (J:105980)
• at E15.5-E17.5, middle ear ossicles do not start the condensation process and thus fail to develop (J:109536)
• at E10.5, the pharyngeal endoderm fails to invaginate toward the surface endoderm to form the tubotympanic recess
• at E17.5, mutants lack tympanic rings (J:109536)

respiratory system
• pharynx in conditional null embryos is hypoplastic, lacking distal arches; the first pouch appears to be hypoplastic

skeleton
• at E17.5, mutants display severe malformations of craniofacial bone structures
• at E17.5, mutants display fused basisphenoid and basioccipital bones (J:109536)
• zygomatic arch is missing
• hyoid bone is hypoplastic
• mandible is shorter than in wild-type
• middle ear is absent (J:105980)
• at E15.5-E17.5, middle ear ossicles do not start the condensation process and thus fail to develop (J:109536)

cardiovascular system
• all null mutants have aortic arch defects
• mutants have retroesophageal right subclavian artery
• at E10.5 all conditional mutants display hypoplasia of the outflow tract
• all conditional null mutants have a single outflow tract
• in mutants the left ventricle communicates with the right through a large VSD

endocrine/exocrine glands
• thyroid glands are smaller than wild-type and ectopically placed in conditional null embryos while conditional heterozygous embryos have ectopically placed thyroid glands

immune system

muscle
• in conditional mutants, the masseter muscle is absent
• in conditional mutants, pterygoid muscles are absent

hematopoietic system

digestive/alimentary system
• observed at E17.5 (J:105980)
• at E17.5, mutants exhibit cleft palate (J:109536)

nervous system
• at E10.5, the otic vesicle is surrounded by an expanded cochleovestibular ganglion rudiment
• at E11.5, the cochleovestibular ganglion is duplicated around the otic vesicle anterior-posterior midline

embryo
• at E10.5, the first pharyngeal pouch fails to outgrow, preventing middle ear bone condensations

integument
• at E17.5, mutants appear edematous

growth/size/body
• in conditional mutants, the masseter muscle is absent
• in conditional mutants, pterygoid muscles are absent
• observed at E17.5 (J:105980)
• at E17.5, mutants exhibit cleft palate (J:109536)
• at E15.5-E17.5, the pinnae do not start the condensation process and thus fail to develop (J:109536)

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
DiGeorge syndrome DOID:11198 OMIM:188400
J:105980 , J:109536


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
10/15/2019
MGI 6.14
The Jackson Laboratory