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Fmr1tm1Rbd
Targeted Allele Detail
Nomenclature
Symbol: Fmr1tm1Rbd
Name: fragile X mental retardation syndrome 1; targeted mutation 1, Robert B Darnell
MGI ID: MGI:3840615
Synonyms: Fmr1I304N, Fmr1tm1(I304N)Drnl, Fmr1tm1(I304N)Rbd
Gene: Fmr1  Location: ChrX:68678541-68717963 bp, + strand  Genetic Position: ChrX, 34.83 cM
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 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)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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:  21 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:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory