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Ctsatm1Avps
Targeted Allele Detail
Summary
Symbol: Ctsatm1Avps
Name: cathepsin A; targeted mutation 1, Alexey Pshezhetsky
MGI ID: MGI:4365387
Synonyms: CathAS190A-Neo
Gene: Ctsa  Location: Chr2:164674793-164682952 bp, + strand  Genetic Position: Chr2, 85.27 cM
Alliance: Ctsatm1Avps 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 (Hypomorph)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsExon 6 contain 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. Transcript expression is reduced indicating that this allele is hypomorphic. (J:153297)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  4 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
11/12/2024
MGI 6.24
The Jackson Laboratory