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Trim32tm1Spc
Targeted Allele Detail
Nomenclature
Symbol: Trim32tm1Spc
Name: tripartite motif-containing 32; targeted mutation 1, Melissa J Spencer
MGI ID: MGI:5287715
Synonyms: T32KI
Gene: Trim32  Location: Chr4:65604986-65616238 bp, + strand  Genetic Position: Chr4, 34.43 cM, cytoband C1
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:175798
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Single point mutation
 
Mutation detailsHomologous 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 3 anatomical structures
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 Trim32 Mutation:  17 strains or lines available
References
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
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/17/2019
MGI 6.14
The Jackson Laboratory