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| Nomenclature |
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Symbol:
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Hspg2tm1.1Rdgr
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Name:
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perlecan (heparan sulfate proteoglycan 2);
targeted mutation 1.1, Kathryn D Rodgers
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MGI ID: |
MGI:3712964 |
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Synonyms: |
C1532Y |
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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:121855
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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-in) |
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Mutation: | |
Single point mutation |
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Mutation details: A G4595A mutation was introduced into the III-3 domaine in exon 36. The frt-flanked neo cassette was removed from the locus via FRT expression. (J:121855)
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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:121855
Rodgers KD et al.,
"Reduced perlecan in mice results in chondrodysplasia resembling Schwartz-Jampel syndrome."
Hum Mol Genet 2007 Mar 1;16(5):515-28
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All: |
1 reference(s)
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Analysis Tools
