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| Nomenclature |
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Symbol:
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Fbn1Tsk
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Name:
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fibrillin 1;
tight skin
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MGI ID: |
MGI:1857348 |
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Synonyms: |
TSK |
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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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Fbn1Tsk/Fbn1+ skin exhibits abnormal organization and distribution of microfibrillar arrays
Show the 1 image(s) involving this allele.
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Mutation origin |
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Strain of Origin:
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B10.D2/(58N)Sn
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Mutation description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Duplication |
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Mutation details: This allele harbors a 30 to 40kb genomic tandem duplication within the Fbn1 gene that results in a larger than normal in-frame transcript produced at normal levels. (J:32931, J:45733, J:55886)
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Inheritance: | |
Semidominant |
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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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Notes |
Genbank ID for this allele: AF007248
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| References |
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