Timp3^tm1Web
Targeted Allele Detail

Summary

• Symbol: Timp3^tm1Web
• Name: tissue inhibitor of metalloproteinase 3; targeted mutation 1, Bernard HF Weber
• MGI ID: MGI:2183790
• Synonyms: Timp3^S156C, Timp3
• Gene: Timp3 Location: Chr10:86136276-86185369 bp, + strand Genetic Position: Chr10, 42.83 cM, cytoband C1-D1
• Alliance: Timp3^tm1Web page

Mutation origin

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

Mutation description

• 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)

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

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 Timp3 Mutation: 19 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: 4 reference(s)