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Symbol
Name
ID
Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
MGI:1298392
Phenotype annotations related to skeleton
Darker colors indicate more annotations
Human Phenotypes
Mandibular prognathia
Split hand
Accelerated skeletal maturation
Knee pain
Cystic angiomatosis of bone
Disease(s) Associated with BSCL2
congenital generalized lipodystrophy type 2
hereditary spastic paraplegia 17

Mouse Phenotypes
decreased bone marrow adipose tissue amount
short tibia
abnormal bone structure
decreased bone mineral content
Availability Mouse Genotype
Bscl2tm1b(EUCOMM)Hmgu/Bscl2tm1b(EUCOMM)Hmgu
Bscl2tm1c(EUCOMM)Hmgu/Bscl2tm1c(EUCOMM)Hmgu
Tg(Adipoq-cre)1Evdr/0  (conditional)

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
04/23/2024
MGI 6.23
The Jackson Laboratory