Gja3^tm1.1Vmb
Targeted Allele Detail

Summary

• Symbol: Gja3^tm1.1Vmb
• Name: gap junction protein, alpha 3; targeted mutation 1.1, Viviana M Berthoud
• MGI ID: MGI:5762597
• Synonyms: Cx46fs380
• Gene: Gja3 Location: Chr14:57271917-57295487 bp, - strand Genetic Position: Chr14, 29.82 cM
• Alliance: Gja3^tm1.1Vmb page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:227244
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: The sequence encoding the first 365 amino acids was followed by an in-frame insertion of the DNA sequence coding for the aberrant amino acid sequence in human Cx46fs380. The final allele lacks the self-excising neomycin resistance cassette inserted upstream of the mouse coding sequence. (J:227244)

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 Gja3 Mutation: 17 strains or lines available

References

• Original: J:227244 Berthoud VM, et al., Connexin46fs380 causes progressive cataracts. Invest Ophthalmol Vis Sci. 2014 Oct;55(10):6639-48
• All: 2 reference(s)