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Dhcr7tm2Fdp
Targeted Allele Detail
Nomenclature
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
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:106758
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Mutation
description
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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 6 anatomical structures
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
References
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)

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
05/15/2018
MGI 6.12
The Jackson Laboratory