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Hspg2tm1.1Rdgr
Targeted Allele Detail
Nomenclature
Symbol: Hspg2tm1.1Rdgr
Name: perlecan (heparan sulfate proteoglycan 2); targeted mutation 1.1, Kathryn D Rodgers
MGI ID: MGI:3712964
Synonyms: C1532Y
Gene: Hspg2  Location: Chr4:137196080-137297941 bp, + strand  Genetic Position: Chr4, 69.93 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:121855
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Humanized sequence, Hypomorph)
Mutation:    Single point mutation
 
Mutation detailsA C1532Y mutation was introduced into the third L4 module of perlecan domain III in exon 36. The frt-flanked neo cassette was removed from the locus via FRT expression. (J:121855)
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: 2 anatomical structures
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:  242 strains or lines available
References
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
All:  2 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
05/10/2022
MGI 6.19
The Jackson Laboratory