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| Nomenclature |
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Symbol:
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Dhcr7tm1Gst
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Name:
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7-dehydrocholesterol reductase;
targeted mutation 1, G S Tint
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MGI ID: |
MGI:2387406 |
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Synonyms: |
Dhcr7-, Dhr7delEx8 |
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Gene:
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Dhcr7
Location:
Chr7:151009050-151034315 bp, + strand
Genetic Position: Chr7,
cytoband F5
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Small size and lung abnormalities in Dhcr7tm1Gst/Dhcr7tm1Gst mice
Show the 3 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
| Earliest citation of germline transmission:
J:71611
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Parent Cell Line:
| E14TG2a (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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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 mutation commonly found in human Smith-Lemli-Opitz/RSH syndrome (SLOS) was mimicked in mouse by replacement of exon 8 and the flanking regions with a PGK-neo cassette in the reverse orientation. The mutation results in deletion of 1/3 of the protein from amino acids 318-471. RT-PCR analysis of liver mRNA from homozygous mutant animals did not amplify a product using primers to the 3' end of the gene. Western blot analysis using antibodies recognizing residues 454-467 of the human protein did not detect protein product in liver proteins from homozygous mutants. (J:71611) |
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| Expression |
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Phenotype
summary
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Phenotype Summary by Mammalian Phenotype terms
(show or
hide all annotated terms)
Genotypes are listed in the next section.
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Key:
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| hm |
homozygous |
ht |
heterozygous |
| cn |
conditional genotype |
cx |
complex: > 1 genome feature |
| tg |
involves transgenes |
ot |
other: hemizygous, indeterminate,... |
| N |
normal phenotype |
 |
expected model not found |
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Phenotypic
data by
genotype
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Phenotypic Data by Genotype
(show or
hide all phenotypic details)
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Disease
models
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| References |
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Original: |
J:71611
Fitzky BU et al.,
"7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome."
J Clin Invest 2001 Sep;108(6):905-15
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All: |
10 reference(s)
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