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C57BLKS/J-Npc1spm/J Strain Detail
Summary
  • Strain Name
    C57BLKS/J-Npc1spm/J
  • Attributes
    mutant strain, spontaneous mutation
  • MGI ID
    MGI:2164181
  • Other IDs
    JAX:002760
Associated
Mutations,
Markers,
and QTL
1 associated mutation
Mutation Carried Marker
Npc1spm Npc1
Associated
Phenotypes
and
Diseases
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
normal phenotype
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Human Diseases

model 1
Niemann-Pick disease √
Key √ disease model expected model not found
Find Mice (IMSR)
1 associated strain record at IMSR
IMSR Repository IMSR Strain Why Matched
JAX:002760 JAX C57BLKS/J-Npc1spm/J exact match to ID
References
  • Earliest
    J:18511 Pentchev PG, et al., A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase. Biochim Biophys Acta. 1980 Sep 8;619(3):669-79
  • All
    9
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)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
10/22/2024
MGI 6.24 		The Jackson Laboratory