Hspg2^tm1.1Rdgr
Targeted Allele Detail

Summary

• Symbol: Hspg2^tm1.1Rdgr
• 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
• Alliance: Hspg2^tm1.1Rdgr page

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 details: A 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)

Disease models

Expression

In Structures Affected by this Mutation:

2 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: 310 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: 3 reference(s)