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Dhcr7tm1Fdp
Targeted Allele Detail
Summary
Symbol: Dhcr7tm1Fdp
Name: 7-dehydrocholesterol reductase; targeted mutation 1, Forbes D Porter
MGI ID: MGI:2181641
Synonyms: Dhcr7-
Gene: Dhcr7  Location: Chr7:143376882-143402147 bp, + strand  Genetic Position: Chr7, 88.33 cM, cytoband F5
Alliance: Dhcr7tm1Fdp page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:68084
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
    A PGK-neo cassette replaced all of exons 3 and 4 as well as a portion of exon 5. (J:68084)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 28 assay results
In Structures Affected by this Mutation: 10 anatomical structure(s)
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:  34 strains or lines available
References
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
All:  10 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory