Dhcr7^tm1.1Sbpa
Targeted Allele Detail

Summary

• Symbol: Dhcr7^tm1.1Sbpa
• Name: 7-dehydrocholesterol reductase; targeted mutation 1.1, Shailendra B Patel
• MGI ID: MGI:6515762
• Synonyms: Dhcr7^flx
• Gene: Dhcr7 Location: Chr7:143376882-143402147 bp, + strand Genetic Position: Chr7, 88.33 cM, cytoband F5
• Alliance: Dhcr7^tm1.1Sbpa page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:303316
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Conditional ready)
• Mutation: Insertion
• Mutation details: Exon 8 was flanked by loxP sites and a neomycin cassette flanked by FRT sites was inserted downstream of exon 1 but before the second loxP site. Flp-mediated recombination removed the neomycin cassette leaving exon 8 floxed. (J:303316)

Disease models

Expression

In Structures Affected by this Mutation:

1 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:303316 Kanuri B, et al., Generation and validation of a conditional knockout mouse model for the study of the Smith-Lemli-Opitz syndrome. J Lipid Res. 2020 Nov 22;62:100002
• All: 1 reference(s)