About   Help   FAQ
Targeted Allele Detail
Symbol: Sc5dtm1Fdp
Name: sterol-C5-desaturase; targeted mutation 1, Forbes D Porter
MGI ID: MGI:2668464
Synonyms: Sc5d-
Gene: Sc5d  Location: Chr9:42251595-42264256 bp, - strand  Genetic Position: Chr9, 23.57 cM, cytoband B
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+
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsSequence encompassing the entirety of exon 5 and a portion of exon 6 was replaced with a neomycin cassette inserted by homologous recombination. (J:84450)
Inheritance:    Recessive
View phenotypes and curated references for all genotypes (concatenated display).
In Mice Carrying this Mutation: 15 assay results
In Structures Affected by this Mutation: 20 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 Sc5d Mutation:  3 strains or lines available
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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.15
The Jackson Laboratory