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| Nomenclature |
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Symbol:
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Sc5dtm1Fdp
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Name:
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sterol-C5-desaturase (fungal ERG3, delta-5-desaturase) homolog (S. cerevisae);
targeted mutation 1, Forbes D Porter
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MGI ID: |
MGI:2668464 |
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Synonyms: |
Sc5d- |
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Gene:
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Sc5d
Location:
Chr9:42254177-42264300 bp, - strand
Genetic Position: Chr9,
23.57 cM, cytoband B
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:84450
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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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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Mutation details: Sequence encompassing the entirety of exon 5 and a portion of exon 6 was replaced with a neomycin cassette inserted by homologous recombination. (J:84450)
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Inheritance: | |
Recessive |
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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 Sc5d Mutation:
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3 strains or lines available |
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| References |
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Original: |
J:84450
Krakowiak PA et al.,
"Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency."
Hum Mol Genet 2003 Jul 1;12(13):1631-41
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All: |
3 reference(s)
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Analysis Tools
