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Targeted Allele Detail
Symbol: Dhcr7tm2Fdp
Name: 7-dehydrocholesterol reductase; targeted mutation 2, Forbes D Porter
MGI ID: MGI:3621217
Synonyms: Dhcr7T93M
Gene: Dhcr7  Location: Chr7:143823145-143848410 bp, + strand  Genetic Position: Chr7, 88.33 cM, cytoband F5
Germline Transmission:  Earliest citation of germline transmission: J:106758
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
Mutation detailsA targeting vector was designed to insert nucleotide substitutions to result in T89M (the equivalent of human T93M found in SLOS patients) and a silent polymorphism creating a FspI restriction endonuclease site in exon 4. LoxP sites were inserted to flank exons 5-7. A neo with a 5' loxP site was inserted upstream of the intron 4 loxP site. (J:106758)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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:  22 strains or lines available
Original:  J:106758 Correa-Cerro LS, et al., Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy. Hum Mol Genet. 2006 Mar 15;15(6):839-51
All:  4 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
The Jackson Laboratory