Dhcr7^tm2Fdp
Targeted Allele Detail

Summary

• Symbol: Dhcr7^tm2Fdp
• Name: 7-dehydrocholesterol reductase; targeted mutation 2, Forbes D Porter
• MGI ID: MGI:3621217
• Synonyms: Dhcr7^T93M
• Gene: Dhcr7 Location: Chr7:143376882-143402147 bp, + strand Genetic Position: Chr7, 88.33 cM, cytoband F5
• Alliance: Dhcr7^tm2Fdp page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:106758
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Humanized sequence, Modified isoform(s))
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A targeting vector was designed to insert nucleotide substitutions to result in T89M (the equivalent of human T93M found in SLOS patients) and a silent polymorphism creating a FspI restriction endonuclease site in exon 4. LoxP sites were inserted to flank exons 5-7. A neo with a 5' loxP site was inserted upstream of the intron 4 loxP site. (J:106758)

Disease models

Expression

In Structures Affected by this Mutation:

5 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 Dhcr7 Mutation: 34 strains or lines available

References

• Original: J:106758 Correa-Cerro LS, et al., Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy. Hum Mol Genet. 2006 Mar 15;15(6):839-51
• All: 4 reference(s)