Trim32^tm1Spc
Targeted Allele Detail

Summary

• Symbol: Trim32^tm1Spc
• Name: tripartite motif-containing 32; targeted mutation 1, Melissa J Spencer
• MGI ID: MGI:5287715
• Synonyms: T32KI
• Gene: Trim32 Location: Chr4:65523223-65534475 bp, + strand Genetic Position: Chr4, 34.43 cM, cytoband C1
• Alliance: Trim32^tm1Spc page

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 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)

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Trim32 Mutation: 27 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)