Fmr1^tm1.1Ics
Targeted Allele Detail

Summary

• Symbol: Fmr1^tm1.1Ics
• Name: fragile X messenger ribonucleoprotein 1; targeted mutation 1.1, Mouse Clinical Institute
• MGI ID: MGI:6715338
• Synonyms: Fmr1^R138Q
• Gene: Fmr1 Location: ChrX:67722147-67761569 bp, + strand Genetic Position: ChrX, 34.83 cM
• Alliance: Fmr1^tm1.1Ics page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:304982
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: The CGA arginine codon was changed into a CAA nucleotide triplet coding for a glutamine (R138Q; c.413G>A) in exon 5. In addition, a loxP flanked neomycin cassette was inserted downstream of exon 5 and removed via cre-mediated recombination. This is a missense mutation identified in Fragile X syndrome patients. (J:304982)

Disease models

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: 28 strains or lines available

References

• Original: J:304982 Prieto M, et al., Missense mutation of Fmr1 results in impaired AMPAR-mediated plasticity and socio-cognitive deficits in mice. Nat Commun. 2021 Mar 10;12(1):1557
• All: 1 reference(s)