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Hspg2tm1.1Soni
Targeted Allele Detail
Summary
Symbol: Hspg2tm1.1Soni
Name: perlecan (heparan sulfate proteoglycan 2); targeted mutation 1.1, Sophie Nicole
MGI ID: MGI:3811188
Synonyms: Hspg2C1532Y
Gene: Hspg2  Location: Chr4:137196080-137297941 bp, + strand  Genetic Position: Chr4, 69.93 cM
Alliance: Hspg2tm1.1Soni page
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 detailsGerm 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 3 anatomical structure(s)
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:  308 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:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory