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Timp3tm1Web
Targeted Allele Detail
Nomenclature
Symbol: Timp3tm1Web
Name: tissue inhibitor of metalloproteinase 3; targeted mutation 1, Bernard BH Weber
MGI ID: MGI:2183790
Synonyms: Timp3S156C
Gene: Timp3  Location: Chr10:86300372-86349506 bp, + strand  Genetic Position: Chr10, 42.83 cM, cytoband C1-D1
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:78059
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsSite-directed mutagenesis of codon 156 (exon 5) resulted in a serine to cysteine substitution. A floxed neomycin selection cassette inserted into intro 4 was excised via the in vitro expression of cre recombinase. Sequence analysis showed that a normal sized transcript detected by Northern blot and RT-PCR analyses contained the desired missense mutation. Western blot analysis of ECM protein extracts confirmed proper translation of the mutant transcript. (J:78059)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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 Timp3 Mutation:  5 strains or lines available
References
Original:  J:78059 Weber BH, et al., A mouse model for Sorsby fundus dystrophy. Invest Ophthalmol Vis Sci. 2002 Aug;43(8):2732-40
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory