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| Nomenclature |
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Symbol:
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Fbn2tm1Rmz
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Name:
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fibrillin 2;
targeted mutation 1, Francesco Ramirez
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MGI ID: |
MGI:2445938 |
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Synonyms: |
Fbn2- |
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Gene:
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Fbn2
Location:
Chr18:58008623-58209926 bp, - strand
Genetic Position: Chr18,
32.15 cM, cytoband D-E1
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Bilateral syndactyly in Fbn2tm1Rmz/Fbn2tm1Rmz mice
Show the 2 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:70592
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Exon 1 was replaced with a neomycin selection cassette inserted by homologous recombination. The deleted region contained the 5' untranslated region and sequence encoding the signal peptide and the first 85 residues of the protein. Northern blot analysis of mRNA obtained from newborn lung tissue indicated an absence of transcript in homozygous mutant mice. No protein was detected by Western blot analysis of conditioned media obtained from homozygous mutant fibroblast cultures. (J:70592)
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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 Fbn2 Mutation:
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4 strains or lines available |
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| References |
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Original: |
J:70592
Arteaga-Solis E et al.,
"Regulation of limb patterning by extracellular microfibrils."
J Cell Biol 2001 Jul 23;154(2):275-81
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All: |
8 reference(s)
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Analysis Tools
