About   Help   FAQ
Targeted Allele Detail
Symbol: Dhcr7tm1Gst
Name: 7-dehydrocholesterol reductase; targeted mutation 1, G S Tint
MGI ID: MGI:2387406
Synonyms: Dhcr7-, Dhr7delEx8
Gene: Dhcr7  Location: Chr7:143376882-143402147 bp, + strand  Genetic Position: Chr7, 88.33 cM, cytoband F5
Alliance: Dhcr7tm1Gst page
Small size and lung abnormalities in Dhcr7tm1Gst/Dhcr7tm1Gst mice

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

Germline Transmission:  Earliest citation of germline transmission: J:71611
Parent Cell Line:  E14TG2a (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted (Humanized sequence, Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 10 assay results
In Structures Affected by this Mutation: 11 anatomical structures
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:  27 strains or lines available
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)

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, and Privacy Statement
Send questions and comments to User Support.
last database update
MGI 6.22
The Jackson Laboratory