Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Fmr1tm2Cgr
Name:	fragile X messenger ribonucleoprotein 1; targeted mutation 2, Ben Oostra
MGI ID:	MGI:2451086
Synonyms:	CGG(98)
Gene:	Fmr1  Location: ChrX:67722147-67761569 bp, + strand  Genetic Position: ChrX, 34.83 cM
Alliance:	Fmr1tm2Cgr page

Germline Transmission:	Earliest citation of germline transmission: J:71202
Parent Cell Line:	E14 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Allele Type:    Targeted (Humanized sequence) Mutation:    Nucleotide repeat expansion   Mutation details: The mouse promoter 8 CGG repeat sequence was replaced with a human 98 CGG repeat and a floxed neo cassette via homologous recombination. The targeted allele was verified by PCR analysis. Germline passage of this allele results in contraction and expansion of the CGG repeats. (J:71202)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(s)

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:	28 strains or lines available

Original:	J:71202 Bontekoe CJ, et al., Instability of a (CGG)98 repeat in the Fmr1 promoter. Hum Mol Genet. 2001 Aug 1;10(16):1693-9
All:	30 reference(s)