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| Nomenclature |
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Symbol:
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Hspg2tm1.1Soni
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Name:
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perlecan (heparan sulfate proteoglycan 2);
targeted mutation 1.1, Sophie Nicole
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MGI ID: |
MGI:3811188 |
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Synonyms: |
Hspg2C1532Y |
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Gene:
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Hspg2
Location:
Chr4:137468769-137570630 bp, + strand
Genetic Position: Chr4,
69.93 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:139975
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129S/SvEv
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Single point mutation |
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Mutation details: Germ line, cre mediated recombination was used to remove the neo cassette. The amino acid substitution C1532Y is unaffected. The reduction of protein expression was confrimed by western blot analysis on fibroblast conditioned culture medium extracts. (J:139975)
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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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| References |
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Original: |
J:139975
Stum M et al.,
"Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia."
Hum Mol Genet 2008 Oct 15;17(20):3166-79
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All: |
1 reference(s)
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Analysis Tools
