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Targeted Allele Detail
Symbol: Cst3tm1Karl
Name: cystatin C; targeted mutation 1, S Karlsson
MGI ID: MGI:2182140
Synonyms: Cstc-, CstC-, Cys68, CysC-
Gene: Cst3  Location: Chr2:148871722-148875512 bp, - strand  Genetic Position: Chr2, 73.6 cM
Germline Transmission:  Earliest citation of germline transmission: J:62407
Parent Cell Line:  CCE/EK.CCE (ES Cell)
Strain of Origin:  129S/SvEv-Gpi1c
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsAn attempted knockin resulted in the generation of a null mouse. The majority of exon 1 was replaced by a human Cst3 cDNA fragment containing a missense mutation that substitutes a glutamine for a leucine at codon 68. In addition, a neomycin selection cassette was inserted at the 3' end of exon 1 and replaced two thirds of intron 1. Northern blot analysis using probes for both the human and mouse transcript showed an absence of both transcripts in lung, heart, testis, kidney and brain tissues obtained from homozygous mutant mice. ELIZA using human- and mouse-specific antibodies failed to detect either protein in homozygous mutant animals. (J:62407)
View phenotypes and curated references for all genotypes (concatenated display).
In Structures Affected by this Mutation: 2 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Cst3 Mutation:  11 strains or lines available
Original:  J:62407 Huh CG, et al., Decreased metastatic spread in mice homozygous for a null allele of the cystatin C protease inhibitor gene. Mol Pathol. 1999 Dec;52(6):332-40
All:  13 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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MGI 6.14
The Jackson Laboratory