Sc5d^tm1Fdp
Targeted Allele Detail

Summary

• Symbol: Sc5d^tm1Fdp
• Name: sterol-C5-desaturase; targeted mutation 1, Forbes D Porter
• MGI ID: MGI:2668464
• Synonyms: Sc5d^-
• Gene: Sc5d Location: Chr9:42162891-42175552 bp, - strand Genetic Position: Chr9, 23.57 cM, cytoband B
• Alliance: Sc5d^tm1Fdp page

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: Sequence 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

Expression

In Mice Carrying this Mutation:	15 assay results
In Structures Affected by this Mutation:	17 anatomical structure(s)

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: 17 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)