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| Nomenclature |
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Symbol:
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Dhcr7tm1Fdp
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Name:
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7-dehydrocholesterol reductase;
targeted mutation 1, Forbes D Porter
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MGI ID: |
MGI:2181641 |
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Synonyms: |
Dhcr7- |
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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:68084
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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-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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A PGK-neo cassette replaced all of exons 3 and 4 as well as a portion of exon 5. (J:68084)
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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:68084
Wassif CA et al.,
"Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome."
Hum Mol Genet 2001 Mar 15;10(6):555-64
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All: |
10 reference(s)
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Analysis Tools
