Fxr1tm1Dln
Targeted Allele Detail
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Symbol: |
Fxr1tm1Dln |
Name: |
FMR1 autosomal homolog 1; targeted mutation 1, David L Nelson |
MGI ID: |
MGI:3046846 |
Synonyms: |
Fxr1 + neo |
Gene: |
Fxr1 Location: Chr3:34074133-34124129 bp, + strand Genetic Position: Chr3, 16.41 cM, cytoband B
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Alliance: |
Fxr1tm1Dln page
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Germline Transmission: |
Earliest citation of germline transmission:
J:91191
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Parent Cell Line: |
E14 (ES Cell)
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Strain of Origin: |
129P2/OlaHsd
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Allele Type: |
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Targeted (Conditional ready, Hypomorph, Modified isoform(s)) |
Mutation: |
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Insertion
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Mutation details: A floxed neo was inserted upstream of exon 2, and an additional loxP site inserted upstream of the promotor. Western blot shows reduced levels of the 82 and 84 kDa isoforms in cardiac and skeletal muscles and smaller isoforms in brains relative to wild type animals, indicating possible alterations in alternative splicing patterns, and that this allele is putatively hypomorphic.
(J:91191)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Fxr1 Mutation: |
164 strains or lines available
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Original: |
J:91191 Mientjes EJ, et al., Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo. Hum Mol Genet. 2004 Jul 1;13(13):1291-302 |
All: |
2 reference(s) |
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