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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Tbx1tm2Bld
targeted mutation 2, Antonio Baldini
MGI:3046792
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Tbx1tm2Bld/Tbx1tm2Bld involves: 129S7/SvEvBrd * C57BL/6 MGI:3046796
ht2
 		Tbx1tm2Bld/Tbx1+ involves: 129S7/SvEvBrd * C57BL/6 MGI:3046797
ht3
 		Tbx1tm1Bld/Tbx1tm2Bld involves: 129S7/SvEvBrd * C57BL/6 MGI:3046798


Genotype
MGI:3046796
hm1
Allelic
Composition		 Tbx1tm2Bld/Tbx1tm2Bld
Genetic
Background		 involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1tm2Bld mutation (1 available); any Tbx1 mutation (36 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
abnormal heart development ( J:91013 )
• alignment of the outflow tract is abnormal in 8 out of 14 embryos at E18.5
ventricular septal defect ( J:91013 )
• a subvalvular ventricular septal defect is seen

craniofacial
abnormal pharyngeal arch morphology ( J:91013 )
• the pharyngeal phenotype is essentially identical to Tbx1tm1Bld homozygotes

embryo
abnormal pharyngeal arch morphology ( J:91013 )
• the pharyngeal phenotype is essentially identical to Tbx1tm1Bld homozygotes

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
DiGeorge syndrome DOID:11198 OMIM:188400
 J:91013




Genotype
MGI:3046797
ht2
Allelic
Composition		 Tbx1tm2Bld/Tbx1+
Genetic
Background		 involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1tm2Bld mutation (1 available); any Tbx1 mutation (36 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
abnormal aortic arch morphology ( J:91013 )
• at E18.5 the same aortic arch abnormalities are seen as in Tbx1tm1Bld heterozygotes

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
DiGeorge syndrome DOID:11198 OMIM:188400
 J:91013




Genotype
MGI:3046798
ht3
Allelic
Composition		 Tbx1tm1Bld/Tbx1tm2Bld
Genetic
Background		 involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1tm1Bld mutation (1 available); any Tbx1 mutation (36 available)
Tbx1tm2Bld mutation (1 available); any Tbx1 mutation (36 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
abnormal heart development ( J:91013 )
• compound heterozygotes show the same cardiovascular phenotype as Tbx1tm1Bld homozygotes

craniofacial
craniofacial phenotype ( J:91013 )
N
• none of the mutants had cleft palates at E18.5 unlike Tbx1tm1Bld homozygotes




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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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory