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Tbx6rv
Spontaneous Allele Detail
Nomenclature
Symbol: Tbx6rv
Name: T-box 6; rib-vertebrae
MGI ID: MGI:1857025
Synonyms: rv
Gene: Tbx6  Location: Chr7:126781483-126785560 bp, + strand  Genetic Position: Chr7, 69.25 cM
Tbx6rv/Tbx6rv and Tbx6rv/+

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
 
Mutation detailsThis 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
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 30 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:  1 strain or line 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:  6 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/12/2015
MGI 5.21
The Jackson Laboratory