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Cers1to
Spontaneous Allele Detail
Summary
Symbol: Cers1to
Name: ceramide synthase 1; toppler
MGI ID: MGI:2653507
Synonyms: to
Gene: Cers1  Location: Chr8:70768425-70784238 bp, + strand  Genetic Position: Chr8, 34.15 cM
Alliance: Cers1to page
Mutation
origin
Strain of Origin:  FVB/N-Tg(TK-neo)#Doe
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA spontaneous C to A substitution results in an alanine to aspartic acid substitution at position 266 (p.A266D). (J:172719)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 3 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Cers1 Mutation:  21 strains or lines available
References
Original:  J:91243 Duchala CS, et al., The toppler mouse: A novel mutant exhibiting loss of Purkinje cells. J Comp Neurol. 2004 Aug 16;476(2):113-29
All:  3 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
11/12/2024
MGI 6.24
The Jackson Laboratory