Tbx6^rv
Spontaneous Allele Detail

Summary

• Symbol: Tbx6^rv
• Name: T-box 6; rib-vertebrae
• MGI ID: MGI:1857025
• Synonyms: rv
• Gene: Tbx6 Location: Chr7:126380655-126384720 bp, + strand Genetic Position: Chr7, 69.25 cM
• Alliance: Tbx6^rv page

Tbx6^rv/Tbx6^rv and Tbx6^rv/+

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57L/J

Mutation description

• Allele Type: Spontaneous (Hypomorph)
• Mutations: Duplication, Insertion
• Tbx6^rv involves 1 genes/genome features (Tbx6) View all
• Mutation details: This hypomorphic allele contains a rearrangement in the promoter region. A 182 bp insertion 240 bp upstream of the translation initiation site includes part of exon 1, intron 1, and a portion of exon 2 in inverted orientation. Whole mount in situ hybridisation detected variable and less abundant transcript expression in homozygous mutant E9.5 embryos. (J:80767)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:

45 assay results

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 Tbx6 Mutation: 17 strains or lines available

References

• Original: J:8119 Theiler K, et al., Development of rib-vertebrae: a new mutation in the house mouse with accessory caudal duplications. Anat Embryol (Berl). 1985;173(1):111-6
• All: 8 reference(s)