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Bscl2tm1Geno
Targeted Allele Detail
Nomenclature
Symbol: Bscl2tm1Geno
Name: Berardinelli-Seip congenital lipodystrophy 2 (seipin); targeted mutation 1, Genoway
MGI ID: MGI:5519934
Gene: Bscl2  Location: Chr19:8837467-8848683 bp, + strand  Genetic Position: Chr19, 5.76 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:200947
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
    Exons 4 through 6 were replaced with a neomycin resistance cassette. (J:200947)
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: 8 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:  8 strains or lines available
References
Original:  J:200947 Prieur X, et al., Thiazolidinediones partially reverse the metabolic disturbances observed in Bscl2/seipin-deficient mice. Diabetologia. 2013 Aug;56(8):1813-25
All:  5 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/18/2020
MGI 6.14
The Jackson Laboratory