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| Nomenclature |
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Symbol:
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Dhcr7tm2Fdp
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Name:
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7-dehydrocholesterol reductase;
targeted mutation 2, Forbes D Porter
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MGI ID: |
MGI:3621217 |
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Synonyms: |
Dhcr7T93M |
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Gene:
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Dhcr7
Location:
Chr7:143823145-143848410 bp, + strand
Genetic Position: Chr7,
88.33 cM, cytoband F5
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:106758
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Parent Cell Line:
| J1 (ES Cell) |
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Strain of Origin:
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129S4/SvJae
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Insertion |
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Mutation details: A targeting vector was designed to insert nucleotide substitutions to result in Thr89Met 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Dhcr7 Mutation:
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6 strains or lines available |
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| References |
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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
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All: |
4 reference(s)
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Analysis Tools
