Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Trip11m1Mawa
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:	Trip11m1Mawa page

Strain of Origin:

C57BL/6J

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

7 anatomical structure(s)

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

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)