Phenotypes for Tbx1 MGI:3046798 MGI Mouse

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Phenotypes Associated with This Genotype

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 (36 available)
Tbx1^tm2Bld 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 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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