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| Nomenclature |
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Symbol:
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Bscl2tm1.2Gliu
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Name:
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Bernardinelli-Seip congenital lipodystrophy 2 homolog (human);
targeted mutation 1.2, George Liu
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MGI ID: |
MGI:5014325 |
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Gene:
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Bscl2
Location:
Chr19:8837687-8848667 bp, + strand
Genetic Position: Chr19,
5.76 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:173404
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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: A neo cassette was inserted upstream of exon 3. An FRT-flanked neo cassette with a 3' loxP site was inserted downstream of exon 3. Flp- and cre-mediated recombination removed the neo cassette and exon 3, respectively. The absence of transcript expression was confirmed by qRT-PCR on white adipose tissue, brown adipose tissue, bone marrow, liver, kidney, and skeletal muscle extracts. (J:173404)
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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 Bscl2 Mutation:
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6 strains or lines available |
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| References |
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Original: |
J:173404
Cui X et al.,
"Seipin ablation in mice results in severe generalized lipodystrophy."
Hum Mol Genet 2011 Aug 1;20(15):3022-30
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All: |
1 reference(s)
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Analysis Tools
