Fxr1^tm1Dln
Targeted Allele Detail

Summary

• Symbol: Fxr1^tm1Dln
• Name: FMR1 autosomal homolog 1; targeted mutation 1, David L Nelson
• MGI ID: MGI:3046846
• Synonyms: Fxr1 + neo
• Gene: Fxr1 Location: Chr3:34074133-34124129 bp, + strand Genetic Position: Chr3, 16.41 cM, cytoband B
• Alliance: Fxr1^tm1Dln page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:91191
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Conditional ready, Hypomorph, Modified isoform(s))
• Mutation: Insertion
• Mutation details: A floxed neo was inserted upstream of exon 2, and an additional loxP site inserted upstream of the promotor. Western blot shows reduced levels of the 82 and 84 kDa isoforms in cardiac and skeletal muscles and smaller isoforms in brains relative to wild type animals, indicating possible alterations in alternative splicing patterns, and that this allele is putatively hypomorphic. (J:91191)

Expression

In Mice Carrying this Mutation:	20 assay results
In Structures Affected by this Mutation:	4 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 Fxr1 Mutation: 166 strains or lines available

References

• Original: J:91191 Mientjes EJ, et al., Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo. Hum Mol Genet. 2004 Jul 1;13(13):1291-302
• All: 2 reference(s)