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Dhcr7tm1Gst
Targeted Allele Detail
Nomenclature
Symbol: Dhcr7tm1Gst
Name: 7-dehydrocholesterol reductase; targeted mutation 1, G S Tint
MGI ID: MGI:2387406
Synonyms: Dhcr7-, Dhr7delEx8
Gene: Dhcr7  Location: Chr7:143823145-143848410 bp, + strand  Genetic Position: Chr7, 88.33 cM, cytoband F5
Small size and lung abnormalities in Dhcr7tm1Gst/Dhcr7tm1Gst 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 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)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 4 assay results
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:  6 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:  13 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/28/2015
MGI 5.22
The Jackson Laboratory