Vcl^tm1.1Whz
Targeted Allele Detail

Summary

• Symbol: Vcl^tm1.1Whz
• Name: vinculin; targeted mutation 1.1, Wolfgang H Ziegler
• MGI ID: MGI:4822196
• Synonyms: VCL-deltaIn20/21
• Gene: Vcl Location: Chr14:20979466-21083744 bp, + strand Genetic Position: Chr14, 11.53 cM
• Alliance: Vcl^tm1.1Whz page

Vcl^tm1.1Whz/Vcl^tm1.1Whz embryos are not viable and show exencephaly and increased cell death

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:163108
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129/Sv

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A loxP site followed by a cDNA containing exons 20 - 22 and the 3' UTR replaced exons 20 - 22 resulting in the removal of introns 20 and 21. This was followed by an FRT flanked neo cassette. In addition a second loxP site followed by a 335 bp of intron 19 and a short exon 20 - 22 cDNA with mutations in exon 20 and 22 that disrupt the lipid binding domain in the tail of the protein were inserted behind the first construct. Flp mediated recombination removed the neo cassette. RT-PCR analysis detected both the full length transcript and a splice variant skipping exons 19 and 20. The reading frame was intact in this variant and immunoblot analysis detected the presence of a mutant protein lacking 68 amino acids. (J:163108)

Expression

In Mice Carrying this Mutation:	4 assay results
In Structures Affected by this Mutation:	7 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 Vcl Mutation: 48 strains or lines available

References

• Original: J:163108 Marg S, et al., The vinculin-DeltaIn20/21 mouse: characteristics of a constitutive, actin-binding deficient splice variant of vinculin. PLoS One. 2010;5(7):e11530
• All: 2 reference(s)