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Sc5dtm1Fdp
Targeted Allele Detail
Nomenclature
Symbol: Sc5dtm1Fdp
Name: sterol-C5-desaturase (fungal ERG3, delta-5-desaturase) homolog (S. cerevisae); targeted mutation 1, Forbes D Porter
MGI ID: MGI:2668464
Synonyms: Sc5d-
Gene: Sc5d  Location: Chr9:42254177-42264300 bp, - strand  Genetic Position: Chr9, 23.57 cM, cytoband B
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:84450
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation details
Inheritance:    Recessive
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 15 assay results
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 Sc5d Mutation:  3 strains or lines available
References
Original:  J:84450 Krakowiak PA, et al., Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency. Hum Mol Genet. 2003 Jul 1;12(13):1631-41
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
12/09/2014
MGI 5.20
The Jackson Laboratory