Tbx1^m1Jlk
Spontaneous Allele Detail

Summary

• Symbol: Tbx1^m1Jlk
• Name: T-box 1; spontaneous mutation 1, John Klingensmith
• MGI ID: MGI:3841191
• Synonyms: Tbx1^GtoT
• Gene: Tbx1 Location: Chr16:18399729-18409412 bp, - strand Genetic Position: Chr16, Syntenic
• Alliance: Tbx1^m1Jlk page

Mutation origin

• Strain of Origin: 129S6.129-Chrd^tm1Emdr

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: A G-to-T mutation at the 5th nucleotide of intron 2 affects splicing. RT-PCR experiments show both exon 2 skipping and intron 2 retention. (J:146769)

Expression

In Mice Carrying this Mutation:	15 assay results
In Structures Affected by this Mutation:	5 anatomical structure(s)

Find Mice (IMSR)

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

References

• Original: J:146769 Choi M, et al., Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse. PLoS Genet. 2009 Feb;5(2):e1000395
• All: 2 reference(s)