Ctsa^tm1.1Avps
Targeted Allele Detail

Summary

• Symbol: Ctsa^tm1.1Avps
• Name: cathepsin A; targeted mutation 1.1, Alexey Pshezhetsky
• MGI ID: MGI:4365386
• Synonyms: CathA^S190A
• Gene: Ctsa Location: Chr2:164674793-164682952 bp, + strand Genetic Position: Chr2, 85.27 cM
• Alliance: Ctsa^tm1.1Avps page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:153297
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Exon 6 was replaced with one that contains nucleotide substitutions (c.571AGC>GCA) resulting in an amino acid substitution of alanine for serine at position 190 (S190A). A floxed neo cassette was inserted downstream of exon 7 and was removed by germ line cre mdiated recombination. While the protein is expressed almost no enzymatic activity is detected. (J:153297)

Expression

In Structures Affected by this Mutation:

6 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 Ctsa Mutation: 30 strains or lines available

References

• Original: J:153297 Seyrantepe V, et al., Enzymatic activity of lysosomal carboxypeptidase (cathepsin) A is required for proper elastic fiber formation and inactivation of endothelin-1. Circulation. 2008 Apr 15;117(15):1973-81
• All: 5 reference(s)