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Bscl2tm1.2Gliu
Targeted Allele Detail
Nomenclature
Symbol: Bscl2tm1.2Gliu
Name: Berardinelli-Seip congenital lipodystrophy 2 (seipin); targeted mutation 1.2, George Liu
MGI ID: MGI:5014325
Synonyms: seipin-
Gene: Bscl2  Location: Chr19:8837687-8848667 bp, + strand  Genetic Position: Chr19, 5.76 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:173404
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA loxP site was inserted upstream of exon 3. An FRT-flanked neomycin resistance 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 10 anatomical structures
Find Mice (IMSR)
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
Carrying any Bscl2 Mutation:  20 strains or lines available
References
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
All:  8 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/19/2018
MGI 6.12
The Jackson Laboratory