Fmr1^tm1Rbd
Targeted Allele Detail

Summary

• Symbol: Fmr1^tm1Rbd
• Name: fragile X messenger ribonucleoprotein 1; targeted mutation 1, Robert B Darnell
• MGI ID: MGI:3840615
• Synonyms: Fmr1^I304N, Fmr1^{tm1(I304N)Drnl}, Fmr1^{tm1(I304N)Rbd}
• Gene: Fmr1 Location: ChrX:67722147-67761569 bp, + strand Genetic Position: ChrX, 34.83 cM
• Alliance: Fmr1^tm1Rbd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:155593
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

Allele Type: Targeted Mutations: Insertion, Nucleotide substitutions Mutation details: PCR mutagenesis was used to create an I304N mutation in exon 10, changing sequence CTG(Leu) ATT(Ile) CAA(Gln) to CTT(Leu) AAC(Asn) CAG(Gln). A loxP-Auto-Cre-NeoR-loxP (ACNF) cassette was inserted in intron 10. Northern blot and quantitative RT-PCR analysis showed that the mutant mRNA was expressed at wild type level and was of the expected size in both brain and testes, but Western blot showed that protein levels were decreased to 13-30% that of wild type. Sequencing of RT-PCR products confirmed the presence of the mutation. (J:155593)

Generation of Fmr1^tm1Rbd allele

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Fmr1 Mutation: 28 strains or lines available

References

• Original: J:155593 Zang JB, et al., A mouse model of the human Fragile X syndrome I304N mutation. PLoS Genet. 2009 Dec;5(12):e1000758
• All: 7 reference(s)