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| Nomenclature |
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Symbol:
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Zmpste24tm1Sgy
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Name:
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zinc metallopeptidase, STE24;
targeted mutation 1, Steven G Young
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MGI ID: |
MGI:2158363 |
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Synonyms: |
Zmeste24- |
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Gene:
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Zmpste24
Location:
Chr4:121059237-121098241 bp, - strand
Genetic Position: Chr4,
56.8 cM
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CT scans illustrating bony lesions in Zmpste24tm1Sgy/Zmpste24tm1Sgy mice.
Show the 4 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:70661
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Parent Cell Line:
| RF8 (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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Mutation details: A genomic fragment containing exon 8 was replaced with a floxed neomycin selection cassette. Enzymatic activity assays on liver cell membranes derived from homozygous mice demonstrated reduced or absent processing of synthetic substrates, suggesting that no functional protein is produced from this allele. (J:70661)
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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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Notes |
Phenotypic Similarity to Human Syndrome: Osteogenesis Imperfecta (J:106473)
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| References |
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Original: |
J:70661
Leung GK et al.,
"Biochemical studies of Zmpste24-deficient mice."
J Biol Chem 2001 Aug 3;276(31):29051-8
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All: |
10 reference(s)
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Analysis Tools
