Gja8^L1
Chemically induced Allele Detail

Summary

• Symbol: Gja8^L1
• Name: gap junction protein, alpha 8; lens mutation 1
• MGI ID: MGI:3774321
• Synonyms: alpha8^S50P, Cx50^S50P
• Gene: Gja8 Location: Chr3:96820882-96833336 bp, - strand
• Alliance: Gja8^L1 page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Altered localization)
• Mutation: Single point mutation
• Mutation details: The L1 mutation was discovered in a cataract screen of G1 progeny of ENU-treated male mice and mapped to Chromosome 3. It corresponds to a T-to-C transition at nt position 148 (counting as nt 1 the A of the initiation codon; the substitution is at nt 219 of Genbank Accession NM_008123), in the second of two total exons the first of which encodes the majority of the 5' untranslated region. The mutation replaces a highly-conserved hydrophilic serine at amino acid position 50, in the first extracellular loop (E1 domain) of the protein, with a hydrophobic proline (S50P). The mutant protein is expressed in the embryonic and adult eye lens. (J:108522)
• Inheritance: Dominant

Expression

In Structures Affected by this Mutation:

4 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 Gja8 Mutation: 33 strains or lines available

References

• Original: J:108522 Xia CH, et al., Diverse gap junctions modulate distinct mechanisms for fiber cell formation during lens development and cataractogenesis. Development. 2006 May;133(10):2033-40
• All: 4 reference(s)