Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Timp3tm1Web
Name:	tissue inhibitor of metalloproteinase 3; targeted mutation 1, Bernard HF Weber
MGI ID:	MGI:2183790
Synonyms:	Timp3S156C, Timp3
Gene:	Timp3  Location: Chr10:86136276-86185369 bp, + strand  Genetic Position: Chr10, 42.83 cM, cytoband C1-D1
Alliance:	Timp3tm1Web page

Germline Transmission:	Earliest citation of germline transmission: J:78059
Parent Cell Line:	CJ7 (ES Cell)
Strain of Origin:	129S1/Sv-Oca2+ Tyr+ Kitl+

Allele Type:    Targeted Mutations:    Insertion, Nucleotide substitutions   Mutation details: Site-directed mutagenesis of codon 179 (exon 5; older nomenclature is S156C) 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

3 anatomical structure(s)

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 Timp3 Mutation:	18 strains or lines available

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:	4 reference(s)