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Targeted Allele Detail
Symbol: Fmr1tm1Rbd
Name: fragile X messenger ribonucleoprotein 1; targeted mutation 1, Robert B Darnell
MGI ID: MGI:3840615
Synonyms: Fmr1I304N, Fmr1tm1(I304N)Drnl, Fmr1tm1(I304N)Rbd
Gene: Fmr1  Location: ChrX:67722147-67761569 bp, + strand  Genetic Position: ChrX, 34.83 cM
Alliance: Fmr1tm1Rbd page
Germline Transmission:  Earliest citation of germline transmission: J:155593
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsPCR 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 Fmr1tm1Rbd allele
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 1 anatomical structures
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:  30 strains or lines available
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
MGI 6.22
The Jackson Laboratory