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| Nomenclature |
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Symbol:
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Trip11m1Mawa
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Name:
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thyroid hormone receptor interactor 11;
mutation 1, Matthew Warman
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MGI ID: |
MGI:4829605 |
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Synonyms: |
ND21, outtestine |
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Gene:
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Trip11
Location:
Chr12:101834043-101913267 bp, - strand
Genetic Position: Chr12,
51.3 cM, cytoband F1
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Mutation
origin |
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Strain of Origin:
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C57BL/6J
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Trip11 Mutation:
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9 strains or lines available |
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| References |
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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
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All: |
2 reference(s)
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Analysis Tools
