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Fmr1tm1.1Ics
Targeted Allele Detail
Nomenclature
Symbol: Fmr1tm1.1Ics
Name: FMRP translational regulator 1; targeted mutation 1.1, Mouse Clinical Institute
MGI ID: MGI:6715338
Synonyms: Fmr1R138Q
Gene: Fmr1  Location: ChrX:67722147-67761569 bp, + strand  Genetic Position: ChrX, 34.83 cM
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 detailsThe 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)
Phenotypes
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View phenotypes and curated references 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: 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)

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
01/18/2022
MGI 6.17
The Jackson Laboratory