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Sacstm1(NCOM)Mfgc
Targeted Allele Detail
Nomenclature
Symbol: Sacstm1(NCOM)Mfgc
Name: sacsin; targeted mutation 1, Mammalian Functional Genomics Centre
MGI ID: MGI:5702397
Gene: Sacs  Location: Chr14:61138457-61240695 bp, + strand  Genetic Position: Chr14, 32.13 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:182034
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Project Collection: NorCOMM
Mutation
description
Allele Type:    Targeted (Null/knockout, Reporter)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsAn IRES, beta-gal cassette replaced most of exon 10. Western blot analysis confirmed the absence of protein expression in the brain. (J:182034)
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: 3 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 Sacs Mutation:  2 strains or lines available
References
Original:  J:182034 Girard M, et al., Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Proc Natl Acad Sci U S A. 2012 Jan 31;109(5):1661-6
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/10/2018
MGI 6.12
The Jackson Laboratory