About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tbx1tm1Bem
targeted mutation 1, Bernice E Morrow
MGI:2179191
Summary 15 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Tbx1tm1Bem/Tbx1tm1Bem FVB.Cg-Tbx1tm1Bem MGI:3587029
hm2
Tbx1tm1Bem/Tbx1tm1Bem involves: 129 * C57BL/6 * CD-1 * SJL MGI:5297334
hm3
Tbx1tm1Bem/Tbx1tm1Bem involves: 129/Sv * C57BL/6J * FVB * SJL MGI:3044694
hm4
Tbx1tm1Bem/Tbx1tm1Bem involves: 129/Sv * C57BL/6J * SJL MGI:4880756
ht5
Tbx1tm1Bem/Tbx1+ B6.Cg-Tbx1tm1Bem MGI:5314147
ht6
Tbx1tm1Bem/Tbx1+ FVB.Cg-Tbx1tm1Bem MGI:3587030
ht7
Tbx1tm1Bem/Tbx1+ involves: 129 * C57BL/6 * CD-1 * SJL MGI:5297335
ht8
Tbx1tm1Bem/Tbx1+ involves: 129/Sv * C57BL/6J * FVB * SJL MGI:3044693
ht9
Tbx1tm1Bem/Tbx1+ involves: 129/Sv * C57BL/6J * SJL MGI:3587028
cx10
Eya1tm1Rilm/Eya1+
Tbx1tm1Bem/Tbx1+
involves: 129 * C57BL/6 * CD-1 * SJL MGI:5297336
cx11
Six1tm1Mair/Six1tm1Mair
Tbx1tm1Bem/Tbx1tm1Bem
involves: 129 * C57BL/6 * CD-1 * SJL MGI:5297337
cx12
Eya1tm1Rilm/Eya1tm1Rilm
Tbx1tm1Bem/Tbx1tm1Bem
involves: 129 * C57BL/6 * CD-1 * SJL MGI:5297338
cx13
Ripply3tm1Sjt/Ripply3tm1Sjt
Tbx1tm1Bem/Tbx1tm1Bem
involves: 129/Sv * 129S1/Sv * C57BL/6J * SJL MGI:4880757
cx14
Ripply3tm1Sjt/Ripply3+
Tbx1tm1Bem/Tbx1+
involves: 129/Sv * 129S1/Sv * C57BL/6J * SJL MGI:4880759
cx15
Pitx2tm2Sac/Pitx2+
Tbx1tm1Bem/Tbx1+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL MGI:3690085


Genotype
MGI:3587029
hm1
Allelic
Composition
Tbx1tm1Bem/Tbx1tm1Bem
Genetic
Background
FVB.Cg-Tbx1tm1Bem
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1tm1Bem mutation (1 available); any Tbx1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• 2 of 15 had a right sided aortic arch
• 15 of 15 had persistent truncus arteriosis

craniofacial
• 15 of 15 had an overt cleft palate

immune system
• a single lobe thyroid gland was present
• 15 of 15 had athymia

hematopoietic system
• a single lobe thyroid gland was present
• 15 of 15 had athymia

digestive/alimentary system
• 15 of 15 had an overt cleft palate

endocrine/exocrine glands
• a single lobe thyroid gland was present
• 15 of 15 had athymia

embryo

muscle

hearing/vestibular/ear
• lack of defined inner ear structures
• missing middle ear structures

growth/size/body
• 15 of 15 had an overt cleft palate

Mouse Models of Human Disease
OMIM ID Ref(s)
DiGeorge Syndrome; DGS 188400 J:91664
Velocardiofacial Syndrome 192430 J:91664




Genotype
MGI:5297334
hm2
Allelic
Composition
Tbx1tm1Bem/Tbx1tm1Bem
Genetic
Background
involves: 129 * C57BL/6 * CD-1 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1tm1Bem mutation (1 available); any Tbx1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• embryos show show a severe, single outflow vessel phenotype at E17.5




Genotype
MGI:3044694
hm3
Allelic
Composition
Tbx1tm1Bem/Tbx1tm1Bem
Genetic
Background
involves: 129/Sv * C57BL/6J * FVB * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1tm1Bem mutation (1 available); any Tbx1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• the otocyst is hypoplastic with impaired growth detected during placode invagination, around E9.0
• expression of genes normally seen in the anterior portion of the otocyst are suppressed and expression of posterior genes expanded posterolatterally
• identifiable vestibular and auditory sensory organs fail to form and at E13.5 the inner ear consists of 2 ventral chambers one of which appears to derive from the endolymphatic projection and has cuboidal epithelial cells like those in the wild-type endolymphatic duct

nervous system
• at E9.0 - E11 in the otic vesicle, ectopic neurogenesis is more widespread and persistent than in heterozygotes
• at E10 - E10.5 ectopic delamination and duplication of the cochlear ganglion rudiment is seen with the ganglion volume increased to 1.83-fold that of wild-type
• at E13.5 a secondary compound ganglion is seen apposed to and innervating the epithelial posterior pole and the central projection of the ganglion is absent
• at E14.5 the ganglia are necrotic and mostly absent at after E16.5

cellular
• at E9.0 - E11 in the otic vesicle, ectopic neurogenesis is more widespread and persistent than in heterozygotes




Genotype
MGI:4880756
hm4
Allelic
Composition
Tbx1tm1Bem/Tbx1tm1Bem
Genetic
Background
involves: 129/Sv * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1tm1Bem mutation (1 available); any Tbx1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• absent in the caudal branchial region




Genotype
MGI:5314147
ht5
Allelic
Composition
Tbx1tm1Bem/Tbx1+
Genetic
Background
B6.Cg-Tbx1tm1Bem
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1tm1Bem mutation (1 available); any Tbx1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mutants exhibit lower levels of spontaneous alternations in the T-maze at 0 and 30 second delays compared to wild-type mice; both wild-type and mutant mice reach a chance level at a 60 second delay
• mutants exhibit a higher degree of thigmotaxis in the inescapable open field than wild-type mice
• however, mutants are indistinguishable in anxiety-related behaviors in the elevated plus maze from wild-type mice
• mutants initially exhibit higher levels of contact with a novel, non-mouse object compared with wild-type mice
• in the T-maze, mutants visit the same arms across trials more often than wild-type mice when mutants show spontaneous alternation (0 second delay) but not when they do not show spontaneous alternation at a 60 second delay, indicating a repetitive behavioral tendency
• mutants exhibit lower levels of active and passive affiliative social interaction at 2 months of age, but no alterations in aggression, olfactory investigation or motor behavior
• mutant pups are impaired in complex patterns of vocalization but not simple vocal patterns
• pups exhibit vocalization less frequently in complex, two-syllable, composite, frequency steps and flat, and for shorter duration in harmonics, two-syllable, composite, and frequency steps

Mouse Models of Human Disease
OMIM ID Ref(s)
Autism 209850 J:177772




Genotype
MGI:3587030
ht6
Allelic
Composition
Tbx1tm1Bem/Tbx1+
Genetic
Background
FVB.Cg-Tbx1tm1Bem
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1tm1Bem mutation (1 available); any Tbx1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• 3 of 29 had outflow tract and pharyngeal arch artery abnormalities including 1 with teratology of fallot with pulmonary atresia, 1 with double outlet right ventricle, and 1 with a retroesophageal right subclavian artery

hearing/vestibular/ear
• 10 of 20 had middle ear abnormalities apparent upon dissection including chronic otitis media, infiltration of inflammatory cells, thickening of the middle ear submucosa, thickening of the bony wall of the bulla, middle ear fluid accumulation, hyperplasia of ciliated cells and associated hearing loss
• the average ABR threshold was 46 dB compared to 29 dB in wild-type mice

immune system




Genotype
MGI:5297335
ht7
Allelic
Composition
Tbx1tm1Bem/Tbx1+
Genetic
Background
involves: 129 * C57BL/6 * CD-1 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1tm1Bem mutation (1 available); any Tbx1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• about 25% of embryos show cardiovascular defects at E17.5




Genotype
MGI:3044693
ht8
Allelic
Composition
Tbx1tm1Bem/Tbx1+
Genetic
Background
involves: 129/Sv * C57BL/6J * FVB * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1tm1Bem mutation (1 available); any Tbx1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• at E9.0 - E11, transient ectopic neurogenesis is seen posteroventromedially and later anterodorsolaterally in the otic vesicle

cellular
• at E9.0 - E11, transient ectopic neurogenesis is seen posteroventromedially and later anterodorsolaterally in the otic vesicle




Genotype
MGI:3587028
ht9
Allelic
Composition
Tbx1tm1Bem/Tbx1+
Genetic
Background
involves: 129/Sv * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1tm1Bem mutation (1 available); any Tbx1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• 2 of 14 have an abnormal origin of the right subclavian artery, an additional 3 of 14 have a retroesophageal right subclavian artery (1 of these also has an interupted aortic arch), and 1 of 14 have a right subclavian artery that arises from the pulmonary artery
• 3 of 14 have a retroesophageal right subclavian artery
• 1 of 14 heterozyotes has an abnormally high aortic arch
• 1 of 14 has an interrupted aortic arch

craniofacial
• hypotrophic fourth arch at E10.5

embryo
• hypotrophic fourth arch at E10.5

Mouse Models of Human Disease
OMIM ID Ref(s)
DiGeorge Syndrome; DGS 188400 J:67796
Velocardiofacial Syndrome 192430 J:67796




Genotype
MGI:5297336
cx10
Allelic
Composition
Eya1tm1Rilm/Eya1+
Tbx1tm1Bem/Tbx1+
Genetic
Background
involves: 129 * C57BL/6 * CD-1 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1tm1Rilm mutation (1 available); any Eya1 mutation (27 available)
Tbx1tm1Bem mutation (1 available); any Tbx1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• about 73% of embryos show cardiovascular defects at E17.5




Genotype
MGI:5297337
cx11
Allelic
Composition
Six1tm1Mair/Six1tm1Mair
Tbx1tm1Bem/Tbx1tm1Bem
Genetic
Background
involves: 129 * C57BL/6 * CD-1 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Six1tm1Mair mutation (0 available); any Six1 mutation (7 available)
Tbx1tm1Bem mutation (1 available); any Tbx1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• about 63% of embryos show cardiovascular defects at E17.5




Genotype
MGI:5297338
cx12
Allelic
Composition
Eya1tm1Rilm/Eya1tm1Rilm
Tbx1tm1Bem/Tbx1tm1Bem
Genetic
Background
involves: 129 * C57BL/6 * CD-1 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1tm1Rilm mutation (1 available); any Eya1 mutation (27 available)
Tbx1tm1Bem mutation (1 available); any Tbx1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• 100% of embryos display a single outflow vessel




Genotype
MGI:4880757
cx13
Allelic
Composition
Ripply3tm1Sjt/Ripply3tm1Sjt
Tbx1tm1Bem/Tbx1tm1Bem
Genetic
Background
involves: 129/Sv * 129S1/Sv * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ripply3tm1Sjt mutation (0 available); any Ripply3 mutation (2 available)
Tbx1tm1Bem mutation (1 available); any Tbx1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• absent in the caudal branchial region

cardiovascular system
• at E18.5 the phenotype is identical to mice homozygous null for Tbx1 alone




Genotype
MGI:4880759
cx14
Allelic
Composition
Ripply3tm1Sjt/Ripply3+
Tbx1tm1Bem/Tbx1+
Genetic
Background
involves: 129/Sv * 129S1/Sv * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ripply3tm1Sjt mutation (0 available); any Ripply3 mutation (2 available)
Tbx1tm1Bem mutation (1 available); any Tbx1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• hypotrophic fourth arch at E10.5

craniofacial
• hypotrophic fourth arch at E10.5




Genotype
MGI:3690085
cx15
Allelic
Composition
Pitx2tm2Sac/Pitx2+
Tbx1tm1Bem/Tbx1+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx2tm2Sac mutation (0 available); any Pitx2 mutation (15 available)
Tbx1tm1Bem mutation (1 available); any Tbx1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• become cyanotic immediately after birth and die

cardiovascular system
• stenosis of the pulmonary trunk
• exhibit severe cardiac defects with incomplete penetrance (about 60%) at E15.5, E18.5 and in newborns
• enlarged atrioventricular canal at E10.5
• occasionally see malformation of the coronary vessels
• occasionally see mispositioning of the aorta
• some show the aorta and the pulmonary artery arising from the right ventricle
• abnormal drainage of the pulmonary vein into a common instead of the left atrium
• atrioventricular valve defects
• atrial septal defects
• hearts are malformed, however they are properly patterned in the atrioventricular canal and around the inner curvature
• reduced ventricular expansion and abnormal ventricular shape are seen at E10.5
• ventricular septal defects

homeostasis/metabolism
• become cyanotic immediately after birth





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/17/2016
MGI 6.03
The Jackson Laboratory