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Hspg2tm1Soni
Targeted Allele Detail
Nomenclature
Symbol: Hspg2tm1Soni
Name: perlecan (heparan sulfate proteoglycan 2); targeted mutation 1, Sophie Nicole
MGI ID: MGI:3811187
Synonyms: Hspg2C1532Y-Neo
Gene: Hspg2  Location: Chr4:137468769-137570630 bp, + strand  Genetic Position: Chr4, 69.93 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:139975
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S/SvEv
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Single point mutation
 
Mutation detailsExon 36 was replaced with one that carried a nucleotide substitution of adenosine for guanine at position 4595 (c.4595G>A) resulting in the amino acid substitution of tyrosine for cystein at position 1532 (C1532Y). A floxed neo cassette was also inserted downstream of exon 36. The reduction of protein expression was confirmed by western blot analysis on fibroblast conditioned culture medium extracts. The presence of the neo cassette downregulates gene activity to a greater extent than in Hspg2tm1.1Soni mice as determined by QRT-PCR. (J:139975)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Hspg2 Mutation:  134 strains or lines available
References
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
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/17/2015
MGI 5.21
The Jackson Laboratory