Dhcr7^tm1Gst
Targeted Allele Detail

Summary

• Symbol: Dhcr7^tm1Gst
• Name: 7-dehydrocholesterol reductase; targeted mutation 1, G S Tint
• MGI ID: MGI:2387406
• Synonyms: Dhcr7^-, Dhr7^delEx8
• Gene: Dhcr7 Location: Chr7:143376882-143402147 bp, + strand Genetic Position: Chr7, 88.33 cM, cytoband F5
• Alliance: Dhcr7^tm1Gst page

Small size and lung abnormalities in Dhcr7^tm1Gst/Dhcr7^tm1Gst mice

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:71611
• Parent Cell Line: E14TG2a (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Humanized sequence, Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A mutation commonly found in human Smith-Lemli-Opitz/RSH syndrome (SLOS) was mimicked in mouse by replacement of exon 8 and the flanking regions with a PGK-neo cassette in the reverse orientation. The mutation results in deletion of 1/3 of the protein from amino acids 318-471. RT-PCR analysis of liver mRNA from homozygous mutant animals did not amplify a product using primers to the 3' end of the gene. Western blot analysis using antibodies recognizing residues 454-467 of the human protein did not detect protein product in liver proteins from homozygous mutants. (J:71611)

Disease models

Expression

In Mice Carrying this Mutation:	10 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	10 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Dhcr7 Mutation: 34 strains or lines available

References

• Original: J:71611 Fitzky BU, et al., 7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome. J Clin Invest. 2001 Sep;108(6):905-15
• All: 18 reference(s)