Phenotypes associated with this allele

• Allele Symbol: Tbx1^tm6(cre)Bld
• Allele Name: targeted mutation 6, Antonio Baldini
• Allele ID: MGI:3757964
• Summary: 10 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Tbx1^tm6(cre)Bld/Tbx1^+	involves: C57BL/6J	MGI:5583884
ht2	Tbx1^tm1Bld/Tbx1^tm6(cre)Bld	involves: 129S7/SvEvBrd	MGI:5551756
cn3	Gt(ROSA)26Sor^tm1(Tbx1/GFP)Bem/Gt(ROSA)26Sor^+ Tbx1^tm6(cre)Bld/Tbx1^+	involves: 129 * C57BL/6 * SJL	MGI:5551752
cn4	Gt(ROSA)26Sor^tm1(Tbx1/GFP)Bem/Gt(ROSA)26Sor^tm1(Tbx1/GFP)Bem Tbx1^tm6(cre)Bld/Tbx1^+	involves: 129 * C57BL/6 * SJL	MGI:5551753
cn5	Slc12a2^tm1.1Jheb/Slc12a2^tm1.1Jheb Tbx1^tm6(cre)Bld/Tbx1^+ Tg(Pax2-cre)1Akg/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5538349
cn6	Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor^+ Tbx1^tm3.1Bld/Tbx1^tm6(cre)Bld	involves: 129S4/SvJaeSor * 129S7/SvEvBrd	MGI:4453458
cn7	Gt(ROSA)26Sor^tm1(Tbx1/GFP)Bem/Gt(ROSA)26Sor^tm1(Tbx1/GFP)Bem Tbx1^tm1Bld/Tbx1^tm6(cre)Bld	involves: 129S7/SvEvBrd * C57BL/6 * SJL	MGI:5551755
cn8	Gt(ROSA)26Sor^tm1(Tbx1/GFP)Bem/Gt(ROSA)26Sor^+ Tbx1^tm1Bld/Tbx1^tm6(cre)Bld	involves: 129S7/SvEvBrd * C57BL/6 * SJL	MGI:5551754
cn9	Setd5^tm1c(EUCOMM)Wtsi/Setd5^tm1c(EUCOMM)Wtsi Tbx1^tm6(cre)Bld/Tbx1^+	involves: C57BL/6N	MGI:7543765
cx10	Smad7^Gt(YHC053)Byg/Smad7^+ Tbx1^tm6(cre)Bld/Tbx1^+	involves: 129P2/OlaHsd * C57BL/6J	MGI:5583882

Genotype
MGI:5583884

ht1

• Allelic Composition: Tbx1^tm6(cre)Bld/Tbx1⁺
• Genetic Background: involves: C57BL/6J

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

cardiovascular system

abnormal blood vessel morphology ( J:212881 )

• 47% of E15.5 fetuses show great vessel defects

Genotype
MGI:5551756

ht2

• Allelic Composition: Tbx1^tm1Bld/Tbx1^tm6(cre)Bld
• Genetic Background: involves: 129S7/SvEvBrd

cardiovascular system

persistent truncus arteriosus ( J:204435 )

• in all mice

ventricular septal defect ( J:204435 )

• in all mice

Genotype
MGI:5551752

cn3

• Allelic Composition: Gt(ROSA)26Sor^{tm1(Tbx1/GFP)Bem}/Gt(ROSA)26Sor⁺; Tbx1^tm6(cre)Bld/Tbx1⁺
• Genetic Background: involves: 129 * C57BL/6 * SJL

cardiovascular system

cardiovascular system phenotype ( J:204435 )

N • mice exhibit normal heart development at E14.5

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:204435 )

N • mice do not exhibit any morphological defects in the inner ear

Genotype
MGI:5551753

cn4

• Allelic Composition: Gt(ROSA)26Sor^{tm1(Tbx1/GFP)Bem}/Gt(ROSA)26Sor^{tm1(Tbx1/GFP)Bem}; Tbx1^tm6(cre)Bld/Tbx1⁺
• Genetic Background: involves: 129 * C57BL/6 * SJL

Heart development defects in Tbx1^tm6(cre)Bld/Tbx1⁺ Gt(ROSA)26Sor^{tm1(Tbx1/GFP)Bem}/Gt(ROSA)26Sor^{tm1(Tbx1/GFP)Bem} mice

mortality/aging

postnatal lethality, complete penetrance ( J:204435 )

• no mice are present at P10

cardiovascular system

persistent truncus arteriosus ( J:204435 )

• in 2 of 5 mice

double outlet right ventricle ( J:204435 )

• in 3 of 5 mice

ventricular septal defect ( J:204435 )

• in all mice

Genotype
MGI:5538349

cn5

• Allelic Composition: Slc12a2^tm1.1Jheb/Slc12a2^tm1.1Jheb; Tbx1^tm6(cre)Bld/Tbx1⁺; Tg(Pax2-cre)1Akg/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

behavior/neurological

hyperactivity ( J:201156 )

circling ( J:201156 )

hearing/vestibular/ear

abnormal inner ear morphology ( J:201156 )

• collapse of the membranes of the vestibular compartments

collapsed Reissner membrane ( J:201156 )

abnormal crista ampullaris morphology ( J:201156 )

• cristae degeneration

utricular degeneration ( J:201156 )

vestibular saccular degeneration ( J:201156 )

Genotype
MGI:4453458

cn6

• Allelic Composition: Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺; Tbx1^tm3.1Bld/Tbx1^tm6(cre)Bld
• Genetic Background: involves: 129S4/SvJaeSor * 129S7/SvEvBrd

immune system

abnormal lymphatic vessel morphology ( J:159824 )

• abnormal lymphatic vessels fail to extend into distal mesentery unlike in wild-type mice

• between E15.5 and E16.5, lymphatic vessels are almost completely lost unlike in wild-type mice

Genotype
MGI:5551755

cn7

• Allelic Composition: Gt(ROSA)26Sor^{tm1(Tbx1/GFP)Bem}/Gt(ROSA)26Sor^{tm1(Tbx1/GFP)Bem}; Tbx1^tm1Bld/Tbx1^tm6(cre)Bld
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL

Gt(ROSA)26Sor^{tm1(Tbx1/GFP)Bem} can patially rescue heart phenotypes in Tbx1^tm6(cre)Bld/Tbx1^tm1Bld mice

cardiovascular system

persistent truncus arteriosus ( J:204435 )

• in 5 of 6 mice

double outlet right ventricle ( J:204435 )

• in 1 of 6 mice

ventricular septal defect ( J:204435 )

• in 5 of 6 mice

Genotype
MGI:5551754

cn8

• Allelic Composition: Gt(ROSA)26Sor^{tm1(Tbx1/GFP)Bem}/Gt(ROSA)26Sor⁺; Tbx1^tm1Bld/Tbx1^tm6(cre)Bld
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL

Failure of inner ear morphogenesis in Tbx1^tm1Bld/Tbx1^tm1Bld mice at E14.5 and partial rescue of inner ear morphogenesis in Tbx1^tm6(cre)Bld/Tbx1^tm1Bld Gt(ROSA)26Sor^{tm1(Tbx1/GFP)Bem}/ Gt(ROSA)26Sor⁺ mice

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:204435 )

N • recovery of the anterior and posterior semicircular canals compared with null mice

abnormal cochlea morphology ( J:204435 )

• partial rescue with null mice

abnormal vestibular saccule morphology ( J:204435 )

• partial rescue with null mice

cardiovascular system

double outlet right ventricle ( J:204435 )

• in half of mice

ventricular septal defect ( J:204435 )

• in all mice

Genotype
MGI:7543765

cn9

• Allelic Composition: Setd5^{tm1c(EUCOMM)Wtsi}/Setd5^{tm1c(EUCOMM)Wtsi}; Tbx1^tm6(cre)Bld/Tbx1⁺
• Genetic Background: involves: C57BL/6N

cardiovascular system

cardiovascular system phenotype ( J:314464 )

N • at E15.5, hearts show no great vessel defects; outflow tract septation is largely normal and the atrial septum and atrioventricular valves are intact

Genotype
MGI:5583882

cx10

• Allelic Composition: Smad7^{Gt(YHC053)Byg}/Smad7⁺; Tbx1^tm6(cre)Bld/Tbx1⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

cardiovascular system

abnormal blood vessel morphology ( J:212881 )

• 52% of E15.5 fetuses show great vessel defects