Cst3^{tm1(CST3*L68Q)Cnw}
Targeted Allele Detail

Summary

• Symbol: Cst3^{tm1(CST3*L68Q)Cnw}
• Name: cystatin C; targeted mutation 1, Gail A Cornwall
• MGI ID: MGI:5586715
• Synonyms: L68Q
• Gene: Cst3 Location: Chr2:148713642-148717432 bp, - strand Genetic Position: Chr2, 73.6 cM
• Alliance: Cst3^{tm1(CST3*L68Q)Cnw} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:210672
• Parent Cell Line: E14.1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Insertion
• Mutation details: The entire human cystatin C gene with a leucine 68 to glutamine (L68Q) single point mutation in exon 2 (without the human promoter) was inserted downstream of the mouse cystatin C gene promoter. ELISA confirmed the human protein in epididymal luminal fluid, and brain and testis lysates and Western blot confirmed expression in epididymal luminal fluid. (J:210672)

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 Cst3 Mutation: 14 strains or lines available

References

• Original: J:210672 Whelly S, et al., Fertility defects in mice expressing the L68Q variant of human cystatin C: a role for amyloid in male infertility. J Biol Chem. 2014 Mar 14;289(11):7718-29
• All: 1 reference(s)