Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Bscl2tm1.2Gliu
Name:	BSCL2 lipid droplet biogenesis associated, seipin; targeted mutation 1.2, George Liu
MGI ID:	MGI:5014325
Synonyms:	seipin-
Gene:	Bscl2  Location: Chr19:8814831-8826047 bp, + strand  Genetic Position: Chr19, 5.76 cM
Alliance:	Bscl2tm1.2Gliu page

Germline Transmission:	Earliest citation of germline transmission: J:173404
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	129

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: A 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

11 anatomical structure(s)

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:	33 strains or lines available

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:	17 reference(s)