|
|
| Nomenclature |
|
Symbol:
|
Fmr1tm1Usdn
|
|
Name:
|
fragile X mental retardation syndrome 1;
targeted mutation 1, Karen Usdin
|
|
MGI ID: |
MGI:3711215 |
|
Synonyms: |
Fmr1PM |
|
Gene:
|
Fmr1
Location:
ChrX:68678541-68717963 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 (knock-in) |
|
Mutation: | |
Insertion |
| |
|
Mutation details: The (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
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| 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:
|
21 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: |
4 reference(s)
|
|
Analysis Tools
