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| Nomenclature |
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Symbol:
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Trim32tm1Spc
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Name:
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tripartite motif-containing 32;
targeted mutation 1, Melissa J Spencer
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MGI ID: |
MGI:5287715 |
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Synonyms: |
T32KI |
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Gene:
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Trim32
Location:
Chr4:65604986-65616238 bp, + strand
Genetic Position: Chr4,
34.43 cM, cytoband C1
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:175798
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Single point mutation |
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Mutation details: Homologous recombination was used to insert a G to A mutation at nucleotide 1465 (resulting in an aspartic acid to asparagine substitution at position 489) and a floxed neo cassette. Western blot analysis of myoblasts from homozygous mice indicated very low levels of expression. However, RT-PCR analysis indicated mRNA expression levels similar to wild-type controls. (J:175798)
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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 Trim32 Mutation:
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4 strains or lines available |
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| References |
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Original: |
J:175798
Kudryashova E et al.,
"The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype."
Hum Mol Genet 2011 Oct 15;20(20):3925-32
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All: |
1 reference(s)
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Analysis Tools
