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Fmr1tm1Usdn
Targeted Allele Detail
Nomenclature
Symbol: Fmr1tm1Usdn
Name: FMRP translational regulator 1; targeted mutation 1, Karen Usdin
MGI ID: MGI:3711215
Synonyms: CGG KI, Fmr1PM
Gene: Fmr1  Location: ChrX:67722147-67761569 bp, + strand  Genetic Position: ChrX, 34.83 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:121413
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted
Mutation:    Insertion
 
Mutation detailsThe (CGG)6 repeats in exon 1 were replaced with two different Sfi 1 sites and these sites were used to insert a premutation-sized repeat tract that was generated by serial ligation of short, stable CGG.GCC-repeat. In addition a 38LoxP vector containing a loxP flanked neomycin resistance cassette was inserted into intron 1. Crossing with mice expressing cre in the germline removed the neo cassette. These mice contain large repeat expansions that transform a premutation-sized allele into a full mutation sized allele in a single generation. (J:121413)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 7 anatomical structures
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:121413 Entezam A, et al., Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model. Gene. 2007 Jun 15;395(1-2):125-34
All:  13 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
11/23/2021
MGI 6.17
The Jackson Laboratory