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| Nomenclature |
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Symbol:
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Fmr1tm2Cgr
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Name:
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fragile X mental retardation syndrome 1;
targeted mutation 2, Ben Oostra
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MGI ID: |
MGI:2451086 |
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Synonyms: |
CGG(98) |
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Gene:
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Fmr1
Location:
ChrX:68678541-68717963 bp, + strand
Genetic Position: ChrX,
34.83 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:71202
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Parent Cell Line:
| E14 (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Nucleotide repeat expansion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Fmr1 Mutation:
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21 strains or lines available |
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| References |
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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
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All: |
15 reference(s)
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Analysis Tools
