Dhcr7tm2Fdp
Targeted Allele Detail
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Symbol: |
Dhcr7tm2Fdp |
Name: |
7-dehydrocholesterol reductase; targeted mutation 2, Forbes D Porter |
MGI ID: |
MGI:3621217 |
Synonyms: |
Dhcr7T93M |
Gene: |
Dhcr7 Location: Chr7:143376882-143402147 bp, + strand Genetic Position: Chr7, 88.33 cM, cytoband F5
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Alliance: |
Dhcr7tm2Fdp page
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Germline Transmission: |
Earliest citation of germline transmission:
J:106758
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Parent Cell Line: |
J1 (ES Cell)
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Strain of Origin: |
129S4/SvJae
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Allele Type: |
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Targeted (Humanized sequence, Modified isoform(s)) |
Mutations: |
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Insertion, Nucleotide substitutions
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Mutation details: A 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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Dhcr7 Mutation: |
34 strains or lines available
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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 |
All: |
4 reference(s) |
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