These mice recapitulate the phenotype of null Fmr1 (fragile X mental retardation syndrome 1 homolog) allele mice in terms of increased macroorchidism with age, protein synthesis-dependent metabotropic glutamate receptor (mGluR)-dependent long-term depression (LTD) at CA1 hippocampal neurons, and performance in multiple behavioral assays. This strain may be useful in studies of Fragile X Mental Retardation Syndrome.
Dr. Robert B Darnell, Rockefeller University, HHMI
These mice recapitulate the phenotype of null allele mice in terms of increased macroorchidism with age, protein synthesis-dependent metabotropic glutamate receptor (mGluR)-dependent long-term depression (LTD) at CA1 hippocampal neurons, and performance in multiple behavioral assays. There is a significant incidence of audiogenic seizures in adulthood. Their mRNA is of correct size and is expressed at correct levels, but protein levels are decreased to 15-30% that of wildtype, most pronounced at postnatal day 14 (P14) and normalizing somewhat in adulthood. This strain may be useful in studies of Fragile X Mental Retardation Syndrome.
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. The targeting vector was introduced to 129-derived embryonic stem (ES) cells. The loxP-flanked segment was self-excised. This strain was backcrossed to C57BL/6 for 10 generations.
|Allele Name||targeted mutation 1, Robert B Darnell|
|Allele Synonym(s)||Fmr1I304N; Fmr1tm1(I304N)Drnl; Fmr1tm1(I304N)Rbd|
|Gene Symbol and Name||Fmr1, fragile X mental retardation syndrome 1|
|Gene Synonym(s)||FMRP; FRAXA; Fmr-1; Fmr-1; POF; POF1|
|Promoter||Fmr1, fragile X mental retardation syndrome 1, mouse, laboratory|
|Strain of Origin||129|
|Molecular Note||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.|
|Mutations Made By|| |
Dr. Robert Darnell, Rockefeller University, HHMI
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