Trip11^m1Mawa
Chemically induced Allele Detail

Summary

• Symbol: Trip11^m1Mawa
• Name: thyroid hormone receptor interactor 11; mutation 1, Matthew Warman
• MGI ID: MGI:4829605
• Synonyms: ND21, outtestine
• Gene: Trip11 Location: Chr12:101800304-101879463 bp, - strand Genetic Position: Chr12, 51.3 cM, cytoband F1
• Alliance: Trip11^m1Mawa page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced a T to A transversion at position 5003 (c.5003T->A) that results in the amino acid substitution of a stop codon for leucine at position 1668 (p.L1668X). The absence of protein expression was confirmed by western blot analysis on primary skin fibroblasts. (J:163656)

Disease models

Expression

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 Trip11 Mutation: 99 strains or lines available

References

• Original: J:163656 Smits P, et al., Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N Engl J Med. 2010 Jan 21;362(3):206-16
• All: 2 reference(s)