Fmr1^tm1Usdn
Targeted Allele Detail

Summary

• Symbol: Fmr1^tm1Usdn
• Name: fragile X messenger ribonucleoprotein 1; targeted mutation 1, Karen Usdin
• MGI ID: MGI:3711215
• Synonyms: CGG KI, Fmr1^PM
• Gene: Fmr1 Location: ChrX:67722147-67761569 bp, + strand Genetic Position: ChrX, 34.83 cM
• Alliance: Fmr1^tm1Usdn page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:121413
• Parent Cell Line: TC1/TC-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted
• Mutation: Insertion
• Mutation details: The (CGG)6 repeats in exon 1 were replaced with two different Sfi 1 sites and these sites were used to insert a premutation-sized repeat tract that was generated by serial ligation of short, stable CGG.GCC-repeat. In addition a 38LoxP vector containing a loxP flanked neomycin resistance cassette was inserted into intron 1. Crossing with mice expressing cre in the germline removed the neo cassette. These mice contain large repeat expansions that transform a premutation-sized allele into a full mutation sized allele in a single generation. (J:121413)

Disease models

Expression

In Structures Affected by this Mutation:

7 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 Fmr1 Mutation: 29 strains or lines available

References

• Original: J:121413 Entezam A, et al., Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model. Gene. 2007 Jun 15;395(1-2):125-34
• All: 17 reference(s)