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| Nomenclature |
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Symbol:
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Fbn1tm2Rmz
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Name:
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fibrillin 1;
targeted mutation 2, Francesco Ramirez
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MGI ID: |
MGI:1934906 |
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Synonyms: |
Fbn1mgR, mgR |
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Gene:
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Fbn1
Location:
Chr2:125300594-125507993 bp, - strand
Genetic Position: Chr2,
61.38 cM, cytoband F
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Clinical view of wild-type and Fbn1tm2Rmz/Fbn1tm2Rmz littermates
Show the 3 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:54081
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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Mutation details: An unequal crossover event resulted in the insertion of a neomycin selection cassette into intron 18 with no loss of coding sequences. RT-PCR analysis confirmed that correctly spliced transcripts are produced from this allele. Northern blot analysis on mRNA derived from skin samples of homozygous mice demonstrated that transcript expression was reduced approximately five-fold. Immunoprecipitation experiments on fibroblasts isolated from homozygous mice confirmed that a protein was expressed from this allele at reduced levels compared to wild-type. This is a hypomorphic allele. (J:54081)
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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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| References |
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Original: |
J:54081
Pereira L et al.,
"Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1."
Proc Natl Acad Sci U S A 1999 Mar 30;96(7):3819-23
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All: |
12 reference(s)
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Analysis Tools
