Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

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 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)

View phenotypes and curated references for all genotypes (concatenated display).

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)

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

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)