About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tbx1tm2.1Bem
targeted mutation 2.1, Bernice E Morrow
MGI:3619149
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Tbx1tm2.1Bem/Tbx1tm2.1Bem
H2az2Tg(Wnt1-cre)11Rth/H2az2+
either: (involves: 129/Sv * C57BL/6 * C57BL/6J * CBA/J * SJL) or (involves: 129/Sv * C57BL/6J * CBA/J * CD-1 * SJL) MGI:4410368
cn2
Tbx1tm2.1Bem/Tbx1+
Tfap2atm1(cre)Moon/Tfap2a+
either: (involves: 129/Sv * C57BL/6 * C57BL/6J * SJL) or (involves: 129/Sv * C57BL/6J * CBA * SJL) MGI:4410369
cn3
Tbx1tm1Bld/Tbx1tm2.1Bem
Tfap2atm1(cre)Moon/Tfap2a+
either: (involves: 129/Sv * C57BL/6 * SJL) or (involves: 129/Sv * C57BL/6J * CBA * SJL) MGI:4410378
cn4
Tbx1tm2.1Bem/Tbx1tm2.2Bem
Foxg1tm1(cre)Skm/Foxg1+
involves: 129 * C57BL/6J * SJL * Swiss Webster MGI:3619802
cn5
Tbx1tm2.1Bem/Tbx1tm2.2Bem
Tg(Pax2-cre)1Akg/0
involves: 129 * C57BL/6 * SJL MGI:3703706


Genotype
MGI:4410368
cn1
Allelic
Composition
Tbx1tm2.1Bem/Tbx1tm2.1Bem
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background
either: (involves: 129/Sv * C57BL/6 * C57BL/6J * CBA/J * SJL) or (involves: 129/Sv * C57BL/6J * CBA/J * CD-1 * SJL)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2az2Tg(Wnt1-cre)11Rth mutation (2 available); any H2az2 mutation (26 available)
Tbx1tm2.1Bem mutation (0 available); any Tbx1 mutation (35 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• mice exhibit no abnormalities




Genotype
MGI:4410369
cn2
Allelic
Composition
Tbx1tm2.1Bem/Tbx1+
Tfap2atm1(cre)Moon/Tfap2a+
Genetic
Background
either: (involves: 129/Sv * C57BL/6 * C57BL/6J * SJL) or (involves: 129/Sv * C57BL/6J * CBA * SJL)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1tm2.1Bem mutation (0 available); any Tbx1 mutation (35 available)
Tfap2atm1(cre)Moon mutation (1 available); any Tfap2a mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Fourth pharyngeal arch artery aplasia in Tbx1tm2.1Bem/Tbx1+ Tfap2atm1(cre)Moon/Tfap2a+ mice

cardiovascular system
• at E10.5, 76% of mice exhibit hypoplasia of the fourth pharyngeal aortic arch

craniofacial
• at E10.5, 76% of mice exhibit hypoplasia of the fourth pharyngeal aortic arch

embryo
• at E10.5, 76% of mice exhibit hypoplasia of the fourth pharyngeal aortic arch




Genotype
MGI:4410378
cn3
Allelic
Composition
Tbx1tm1Bld/Tbx1tm2.1Bem
Tfap2atm1(cre)Moon/Tfap2a+
Genetic
Background
either: (involves: 129/Sv * C57BL/6 * SJL) or (involves: 129/Sv * C57BL/6J * CBA * SJL)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1tm1Bld mutation (1 available); any Tbx1 mutation (35 available)
Tbx1tm2.1Bem mutation (0 available); any Tbx1 mutation (35 available)
Tfap2atm1(cre)Moon mutation (1 available); any Tfap2a mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• at E15.5, 11 of 20 mice exhibit aberrant right subclavian artery unlike wild-type mice
• mice exhibit defects in the great vessels unlike wild-type mice
• one mouse exhibits truncus arteriosus communis unlike wild-type mice
• at E15.5 in one mouse
• at E18.5 in one mouse

craniofacial
• in 9 of 20 mice

immune system
• 12 of 20 mice exhibit an absent or hypoplastic thymus unlike wild-type mice
• 12 of 20 mice exhibit an absent or hypoplastic thymus unlike wild-type mice

digestive/alimentary system
• in 9 of 20 mice

hematopoietic system
• 12 of 20 mice exhibit an absent or hypoplastic thymus unlike wild-type mice
• 12 of 20 mice exhibit an absent or hypoplastic thymus unlike wild-type mice

endocrine/exocrine glands
• 12 of 20 mice exhibit an absent or hypoplastic thymus unlike wild-type mice
• 12 of 20 mice exhibit an absent or hypoplastic thymus unlike wild-type mice

growth/size/body
• in 9 of 20 mice




Genotype
MGI:3619802
cn4
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 (29 available)
Tbx1tm2.1Bem mutation (0 available); any Tbx1 mutation (35 available)
Tbx1tm2.2Bem mutation (0 available); any Tbx1 mutation (35 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




Genotype
MGI:3703706
cn5
Allelic
Composition
Tbx1tm2.1Bem/Tbx1tm2.2Bem
Tg(Pax2-cre)1Akg/0
Genetic
Background
involves: 129 * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1tm2.1Bem mutation (0 available); any Tbx1 mutation (35 available)
Tbx1tm2.2Bem mutation (0 available); any Tbx1 mutation (35 available)
Tg(Pax2-cre)1Akg mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• at E10.5
• early otic vesicle development is normal; however, the structure is hypoplastic at E10.5
• in contrast, periotic mesenchyme development appears normal
• at E17.5, 12 of 16 mutant ears show complete failure of inner ear development while the remaining appear completely normal
• in contrast, formation of the otic capsule and development of middle ear ossicles and pinnae is clearly normal at E17.5 and in adulthood
• in 12 of 16 mutant inner ears
• in 12 of 16 mutant inner ears
• in 12 of 16 mutant inner ears
• at E17.5, 6 of 8 mutants show complete aplasia of inner ear sensory organs
• at E17.5, 6 of 8 mutant embryos display a severely hypoplastic inner ear
• severe hypoplasia is bilateral and present in 12/16 mutant ears
• at E17.5, the inner ear persists in a rudimentary otic vesicle stage
• 3 of 5 adults exhibit no hearing on either the left or right side, as determined by auditory brainstem response testing
• the remaining two adults display normal hearing, consistent with the incomplete penetrance of the inner ear phenotype noted at E17.5
• in 3 of 5 adult mutants

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

embryo
N
• at E10.5, mutants show normal invagination of the pharyngeal endoderm to form the future tubotympanic recess

craniofacial
N
• mutants survive in normal Mendelian ratios through adulthood and show normal craniofacial bone development at E17.5





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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
07/05/2024
MGI 6.24
The Jackson Laboratory