Phenotypes associated with this allele

• Allele Symbol: Tbx1^tm1Bem
• Allele Name: targeted mutation 1, Bernice E Morrow
• Allele ID: MGI:2179191
• Summary: 15 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tbx1^tm1Bem/Tbx1^tm1Bem	FVB.Cg-Tbx1^tm1Bem	MGI:3587029
hm2	Tbx1^tm1Bem/Tbx1^tm1Bem	involves: 129 * C57BL/6 * CD-1 * SJL	MGI:5297334
hm3	Tbx1^tm1Bem/Tbx1^tm1Bem	involves: 129/Sv * C57BL/6J * FVB * SJL	MGI:3044694
hm4	Tbx1^tm1Bem/Tbx1^tm1Bem	involves: 129/Sv * C57BL/6J * SJL	MGI:4880756
ht5	Tbx1^tm1Bem/Tbx1^+	B6.Cg-Tbx1^tm1Bem	MGI:5314147
ht6	Tbx1^tm1Bem/Tbx1^+	FVB.Cg-Tbx1^tm1Bem	MGI:3587030
ht7	Tbx1^tm1Bem/Tbx1^+	involves: 129 * C57BL/6 * CD-1 * SJL	MGI:5297335
ht8	Tbx1^tm1Bem/Tbx1^+	involves: 129/Sv * C57BL/6J * FVB * SJL	MGI:3044693
ht9	Tbx1^tm1Bem/Tbx1^+	involves: 129/Sv * C57BL/6J * SJL	MGI:3587028
cx10	Eya1^tm1Rilm/Eya1^+ Tbx1^tm1Bem/Tbx1^+	involves: 129 * C57BL/6 * CD-1 * SJL	MGI:5297336
cx11	Six1^tm1Mair/Six1^tm1Mair Tbx1^tm1Bem/Tbx1^tm1Bem	involves: 129 * C57BL/6 * CD-1 * SJL	MGI:5297337
cx12	Eya1^tm1Rilm/Eya1^tm1Rilm Tbx1^tm1Bem/Tbx1^+	involves: 129 * C57BL/6 * CD-1 * SJL	MGI:5297338
cx13	Pitx2^tm2Sac/Pitx2^+ Tbx1^tm1Bem/Tbx1^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL	MGI:3690085
cx14	Ripply3^tm1Sjt/Ripply3^tm1Sjt Tbx1^tm1Bem/Tbx1^tm1Bem	involves: 129/Sv * 129S1/Sv * C57BL/6J * SJL	MGI:4880757
cx15	Ripply3^tm1Sjt/Ripply3^+ Tbx1^tm1Bem/Tbx1^+	involves: 129/Sv * 129S1/Sv * C57BL/6J * SJL	MGI:4880759

Genotype
MGI:3587029

hm1

• Allelic Composition: Tbx1^tm1Bem/Tbx1^tm1Bem
• Genetic Background: FVB.Cg-Tbx1^tm1Bem

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

cardiovascular system

right aortic arch ( J:91664 )

• 2 of 15 had a right sided aortic arch

persistent truncus arteriosus ( J:91664 )

• 15 of 15 had persistent truncus arteriosis

craniofacial

palatal shelves fail to meet at midline ( J:91664 )

absent masseter muscle ( J:91664 )

absent pterygoid muscle ( J:91664 )

cleft palate ( J:91664 )

• 15 of 15 had an overt cleft palate

anotia ( J:91664 )

immune system

thymus hypoplasia ( J:91664 )

• a single lobe thyroid gland was present

athymia ( J:91664 )

• 15 of 15 had athymia

hematopoietic system

thymus hypoplasia ( J:91664 )

• a single lobe thyroid gland was present

athymia ( J:91664 )

• 15 of 15 had athymia

digestive/alimentary system

palatal shelves fail to meet at midline ( J:91664 )

cleft palate ( J:91664 )

• 15 of 15 had an overt cleft palate

endocrine/exocrine glands

absent ultimobranchial body ( J:91664 )

absent parathyroid glands ( J:91664 )

thymus hypoplasia ( J:91664 )

• a single lobe thyroid gland was present

athymia ( J:91664 )

• 15 of 15 had athymia

embryo

absent ultimobranchial body ( J:91664 )

muscle

absent masseter muscle ( J:91664 )

absent pterygoid muscle ( J:91664 )

hearing/vestibular/ear

anotia ( J:91664 )

abnormal inner ear morphology ( J:91664 )

• lack of defined inner ear structures

abnormal middle ear morphology ( J:91664 )

• missing middle ear structures

growth/size/body

palatal shelves fail to meet at midline ( J:91664 )

absent masseter muscle ( J:91664 )

absent pterygoid muscle ( J:91664 )

cleft palate ( J:91664 )

• 15 of 15 had an overt cleft palate

anotia ( J:91664 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
DiGeorge syndrome		DOID:11198	OMIM:188400	J:91664
velocardiofacial syndrome		DOID:12583	OMIM:192430	J:91664

Genotype
MGI:5297334

hm2

• Allelic Composition: Tbx1^tm1Bem/Tbx1^tm1Bem
• Genetic Background: involves: 129 * C57BL/6 * CD-1 * SJL

cardiovascular system

abnormal cardiovascular development ( J:172023 )

• embryos show show a severe, single outflow vessel phenotype at E17.5

Genotype
MGI:3044694

hm3

• Allelic Composition: Tbx1^tm1Bem/Tbx1^tm1Bem
• Genetic Background: involves: 129/Sv * C57BL/6J * FVB * SJL

hearing/vestibular/ear

otic vesicle hypoplasia ( J:89188 )

• 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

abnormal inner ear morphology ( J:89188 )

• 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

abnormal neuron differentiation ( J:89188 )

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

abnormal cochlear ganglion morphology ( J:89188 )

• 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

abnormal neuron differentiation ( J:89188 )

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

Genotype
MGI:4880756

hm4

• Allelic Composition: Tbx1^tm1Bem/Tbx1^tm1Bem
• Genetic Background: involves: 129/Sv * C57BL/6J * SJL

embryo

abnormal pharyngeal pouch morphology ( J:167713 )

• absent in the caudal branchial region

Genotype
MGI:5314147

ht5

• Allelic Composition: Tbx1^tm1Bem/Tbx1⁺
• Genetic Background: B6.Cg-Tbx1^tm1Bem

behavior/neurological

abnormal spatial working memory ( J:177772 )

• 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

increased thigmotaxis ( J:177772 )

• 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

abnormal response to novel object ( J:177772 )

• mutants initially exhibit higher levels of contact with a novel, non-mouse object compared with wild-type mice

abnormal motor capabilities/coordination/movement ( J:177772 )

• 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

abnormal social/conspecific interaction behavior ( J:177772 )

• 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

decreased vocalization ( J:177772 )

• 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		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:177772

Genotype
MGI:3587030

ht6

• Allelic Composition: Tbx1^tm1Bem/Tbx1⁺
• Genetic Background: FVB.Cg-Tbx1^tm1Bem

cardiovascular system

abnormal cardiac outflow tract development ( J:91664 )

• 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

abnormal middle ear morphology ( J:91664 )

• 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

increased or absent threshold for auditory brainstem response ( J:91664 )

• the average ABR threshold was 46 dB compared to 29 dB in wild-type mice

increased susceptibility to otitis media ( J:91664 )

immune system

increased susceptibility to otitis media ( J:91664 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
DiGeorge syndrome		DOID:11198	OMIM:188400	J:91664
otitis media		DOID:10754		J:91664
velocardiofacial syndrome		DOID:12583	OMIM:192430	J:91664

Genotype
MGI:5297335

ht7

• Allelic Composition: Tbx1^tm1Bem/Tbx1⁺
• Genetic Background: involves: 129 * C57BL/6 * CD-1 * SJL

cardiovascular system

abnormal cardiovascular development ( J:172023 )

• about 25% of embryos show cardiovascular defects at E17.5

Genotype
MGI:3044693

ht8

• Allelic Composition: Tbx1^tm1Bem/Tbx1⁺
• Genetic Background: involves: 129/Sv * C57BL/6J * FVB * SJL

nervous system

abnormal neuron differentiation ( J:89188 )

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

cellular

abnormal neuron differentiation ( J:89188 )

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

Genotype
MGI:3587028

ht9

• Allelic Composition: Tbx1^tm1Bem/Tbx1⁺
• Genetic Background: involves: 129/Sv * C57BL/6J * SJL

cardiovascular system

aberrant origin of the right subclavian artery ( J:67796 )

• 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

retroesophageal right subclavian artery ( J:67796 )

• 3 of 14 have a retroesophageal right subclavian artery

cervical aortic arch ( J:67796 )

• 1 of 14 heterozyotes has an abnormally high aortic arch

interrupted aortic arch ( J:67796 )

• 1 of 14 has an interrupted aortic arch

craniofacial

abnormal fourth pharyngeal arch morphology ( J:167713 )

• hypotrophic at E10.5

small pharyngeal arch ( J:167713 )

• hypotrophic fourth arch at E10.5

embryo

abnormal fourth pharyngeal arch morphology ( J:167713 )

• hypotrophic at E10.5

small pharyngeal arch ( J:167713 )

• hypotrophic fourth arch at E10.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
DiGeorge syndrome		DOID:11198	OMIM:188400	J:67796
velocardiofacial syndrome		DOID:12583	OMIM:192430	J:67796

Genotype
MGI:5297336

cx10

• Allelic Composition: Eya1^tm1Rilm/Eya1⁺; Tbx1^tm1Bem/Tbx1⁺
• Genetic Background: involves: 129 * C57BL/6 * CD-1 * SJL

Cardiovascular defects in mice with mutations of one or both copies of Eya1^tm1Rilm and Tbx1^tm1Bem

cardiovascular system

abnormal cardiovascular development ( J:172023 )

• about 73% of embryos show cardiovascular defects at E17.5

Genotype
MGI:5297337

cx11

• Allelic Composition: Six1^tm1Mair/Six1^tm1Mair; Tbx1^tm1Bem/Tbx1^tm1Bem
• Genetic Background: involves: 129 * C57BL/6 * CD-1 * SJL

cardiovascular system

abnormal cardiovascular development ( J:172023 )

• about 63% of embryos show cardiovascular defects at E17.5

Genotype
MGI:5297338

cx12

• Allelic Composition: Eya1^tm1Rilm/Eya1^tm1Rilm; Tbx1^tm1Bem/Tbx1⁺
• Genetic Background: involves: 129 * C57BL/6 * CD-1 * SJL

Cardiovascular defects in mice with mutations of one or both copies of Eya1^tm1Rilm and Tbx1^tm1Bem

cardiovascular system

persistent truncus arteriosus ( J:172023 )

• 100% of embryos display a single outflow vessel

Genotype
MGI:3690085

cx13

• Allelic Composition: Pitx2^tm2Sac/Pitx2⁺; Tbx1^tm1Bem/Tbx1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL

mortality/aging

neonatal lethality, complete penetrance ( J:107397 )

• become cyanotic immediately after birth and die

cardiovascular system

supravalvar pulmonary trunk stenosis ( J:107397 )

• stenosis of the pulmonary trunk

abnormal heart morphology ( J:107397 )

• exhibit severe cardiac defects with incomplete penetrance (about 60%) at E15.5, E18.5 and in newborns

abnormal fetal atrioventricular canal morphology ( J:107397 )

• enlarged atrioventricular canal at E10.5

abnormal coronary vessel morphology ( J:107397 )

• occasionally see malformation of the coronary vessels

abnormal heart and great vessel attachment ( J:107397 )

• occasionally see mispositioning of the aorta

double outlet right ventricle ( J:107397 )

• some show the aorta and the pulmonary artery arising from the right ventricle

anomalous pulmonary venous connection ( J:107397 )

• abnormal drainage of the pulmonary vein into a common instead of the left atrium

abnormal atrioventricular valve morphology ( J:107397 )

• atrioventricular valve defects

common atrioventricular valve ( J:107397 )

atrial septal defect ( J:107397 )

• atrial septal defects

abnormal heart shape ( J:107397 )

• hearts are malformed, however they are properly patterned in the atrioventricular canal and around the inner curvature

abnormal heart ventricle morphology ( J:107397 )

• reduced ventricular expansion and abnormal ventricular shape are seen at E10.5

ventricular septal defect ( J:107397 )

• ventricular septal defects

homeostasis/metabolism

cyanosis ( J:107397 )

• become cyanotic immediately after birth

Genotype
MGI:4880757

cx14

• Allelic Composition: Ripply3^tm1Sjt/Ripply3^tm1Sjt; Tbx1^tm1Bem/Tbx1^tm1Bem
• Genetic Background: involves: 129/Sv * 129S1/Sv * C57BL/6J * SJL

embryo

abnormal pharyngeal pouch morphology ( J:167713 )

• absent in the caudal branchial region

cardiovascular system

abnormal cardiovascular system morphology ( J:167713 )

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

Genotype
MGI:4880759

cx15

• Allelic Composition: Ripply3^tm1Sjt/Ripply3⁺; Tbx1^tm1Bem/Tbx1⁺
• Genetic Background: involves: 129/Sv * 129S1/Sv * C57BL/6J * SJL

embryo

abnormal fourth pharyngeal arch morphology ( J:167713 )

• hypotrophic at E10.5

small pharyngeal arch ( J:167713 )

• hypotrophic fourth arch at E10.5

craniofacial

abnormal fourth pharyngeal arch morphology ( J:167713 )

• hypotrophic at E10.5

small pharyngeal arch ( J:167713 )

• hypotrophic fourth arch at E10.5