Hspg2^tm1Soni
Targeted Allele Detail

Summary

• Symbol: Hspg2^tm1Soni
• Name: perlecan (heparan sulfate proteoglycan 2); targeted mutation 1, Sophie Nicole
• MGI ID: MGI:3811187
• Synonyms: Hspg2^C1532Y-Neo
• Gene: Hspg2 Location: Chr4:137196080-137297941 bp, + strand Genetic Position: Chr4, 69.93 cM
• Alliance: Hspg2^tm1Soni 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 (Hypomorph)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 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 Hspg2^tm1.1Soni mice as determined by QRT-PCR. (J:139975)

Disease models

Expression

In Structures Affected by this Mutation:

1 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: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: 5 reference(s)