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Symbol
Name
ID
Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
MGI:1298392
Phenotype annotations related to limbs/digits/tail
Darker colors indicate more annotations
Human Phenotypes
Split hand
Long foot
Pes cavus
Pes planus
Abnormality of the foot musculature
Hand muscle atrophy
Thenar muscle atrophy
Hand muscle weakness
Thenar muscle weakness
Foot dorsiflexor weakness
Lower limb muscle weakness
Large hands
Disease(s) Associated with BSCL2
congenital generalized lipodystrophy type 2
hereditary spastic paraplegia 17

Mouse Phenotypes
short tibia
Availability Mouse Genotype
Bscl2tm1b(EUCOMM)Hmgu/Bscl2tm1b(EUCOMM)Hmgu

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