Fhl1^tm1.1Mihi
Targeted Allele Detail

Summary

• Symbol: Fhl1^tm1.1Mihi
• Name: four and a half LIM domains 1; targeted mutation 1.1, Michio Hirano
• MGI ID: MGI:5705759
• Synonyms: Fhl1^pW122S
• Gene: Fhl1 Location: ChrX:55777147-55838706 bp, + strand Genetic Position: ChrX, 30.06 cM, cytoband A6-A7.1
• Alliance: Fhl1^tm1.1Mihi page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:218097
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: (129S/SvEv x C57BL/6N)F1

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: The targeting vector was designed to insert a point mutation (G365C) into exon 5 by site-directed mutagenesis. A loxP site was inserted upstream of exon 5 and an FRT-flanked neomycin cassette followed be a second loxP site was inserted downstream of exon 6. The mutation results in a change in amino acid 422 from tryptophan to serine. Flp-mediated recombination removed the FRT-flanked neo cassette leaving exons 5-6 floxed. (J:218097)

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Fhl1 Mutation: 8 strains or lines available

References

• Original: J:218097 Emmanuele V, et al., Fhl1 W122S causes loss of protein function and late-onset mild myopathy. Hum Mol Genet. 2015 Feb 1;24(3):714-26
• All: 3 reference(s)