All Phenotypes Tbx1<tm2Bld> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Tbx1^tm2Bld
targeted mutation 2, Antonio Baldini
MGI:3046792

Summary

3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tbx1^tm2Bld/Tbx1^tm2Bld	involves: 129S7/SvEvBrd * C57BL/6	MGI:3046796
ht2	Tbx1^tm2Bld/Tbx1⁺	involves: 129S7/SvEvBrd * C57BL/6	MGI:3046797
ht3	Tbx1^tm1Bld/Tbx1^tm2Bld	involves: 129S7/SvEvBrd * C57BL/6	MGI:3046798

Allelic Composition	Tbx1^tm2Bld/Tbx1^tm2Bld
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1^tm2Bld mutation (1 available); any Tbx1 mutation (34 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 Tbx1^tm1Bld homozygotes

embryo

abnormal pharyngeal arch morphology ( J:91013 )

• the pharyngeal phenotype is essentially identical to Tbx1^tm1Bld homozygotes

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

Allelic Composition	Tbx1^tm2Bld/Tbx1⁺
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1^tm2Bld mutation (1 available); any Tbx1 mutation (34 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 Tbx1^tm1Bld heterozygotes

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

Allelic Composition	Tbx1^tm1Bld/Tbx1^tm2Bld
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1^tm1Bld mutation (1 available); any Tbx1 mutation (34 available)
Tbx1^tm2Bld mutation (1 available); any Tbx1 mutation (34 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 Tbx1^tm1Bld homozygotes

craniofacial

craniofacial phenotype ( J:91013 )

N	• none of the mutants had cleft palates at E18.5 unlike Tbx1^tm1Bld homozygotes

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
DiGeorge syndrome	DOID:11198	OMIM:188400	J:91013
velocardiofacial syndrome	DOID:12583	OMIM:192430	J:91013

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)
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