Tbx1^tm1Bld
Targeted Allele Detail

Summary

• Symbol: Tbx1^tm1Bld
• Name: T-box 1; targeted mutation 1, Antonio Baldini
• MGI ID: MGI:2179136
• Synonyms: Tbx1-, Tbx1^lacZ
• Gene: Tbx1 Location: Chr16:18399729-18409412 bp, - strand Genetic Position: Chr16, Syntenic
• Alliance: Tbx1^tm1Bld page

Cleft palate, absent thymus and ear and cardiovascular abnormalities in Tbx1^tm1Bld/Tbx1^tm1Bld mice

Show the 5 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:67409
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutation: Insertion
• Mutation details: An IRES-lacZ reporter gene followed by a loxP-flanked neomycin resistance cassette was inserted into exon 5, which encodes part of the T box domain resulting in a functionally null allele. (J:67409)

Disease models

Expression

In Mice Carrying this Mutation:	296 assay results 4 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	46 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Tbx1 Mutation: 36 strains or lines available

References

• Original: J:67409 Lindsay EA, et al., Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice. Nature. 2001 Mar 1;410(6824):97-101
• All: 67 reference(s)