Ttr^tm1.1Smoc
Targeted Allele Detail

Summary

• Symbol: Ttr^tm1.1Smoc
• Name: transthyretin; targeted mutation 1.1, Shanghai Model Organisms Center
• MGI ID: MGI:6194707
• Synonyms: TTR^-
• Gene: Ttr Location: Chr18:20798337-20807378 bp, + strand Genetic Position: Chr18, 11.47 cM
• Alliance: Ttr^tm1.1Smoc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:257096
• Parent Cell Line: JM8A3 (ES Cell)
• Strain of Origin: C57BL/6N-A^tm1Brd

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutation: Single point mutation
• Mutation details: Exon 3 containing a G to C point mutation at the 107th base resulting in a glycine to arginine change at amino acid 83 (Gly83Arg) was introduced into the gene via homologous recombination. A FRT-flanked PGK-neo cassette and a loxP site were inserted upstream of exon 3. Flp-mediated recombination removed the selection cassette. Western blot analysis indicates lower protein expression than in wild-type mice. (J:257096)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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 Ttr Mutation: 46 strains or lines available

References

• Original: J:257096 Ran LX, et al., A mouse model of a novel missense mutation (Gly83Arg) in a Chinese kindred manifesting vitreous amyloidosis only. Exp Eye Res. 2018 Feb 1;169:13-19
• All: 1 reference(s)