Gja8^R205G
Spontaneous Allele Detail

Summary

• Symbol: Gja8^R205G
• Name: gap junction protein, alpha 8; Arg205Gly
• MGI ID: MGI:5489751
• Synonyms: Nm2249
• Gene: Gja8 Location: Chr3:96820882-96833336 bp, - strand
• Alliance: Gja8^R205G page

Dense nuclear cataracts in heterozygous and homozygous Gja8^R205G mice and microphthalmia in homozygotes

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: CWXS/Agl

Mutation description

Allele Type: Spontaneous Mutation: Single point mutation Mutation details: A spontaneous C-to-G point mutation results in the amino acid substitution of arginine with glycine at position 205 (p.R205G). (J:195727) Inheritance: Semidominant

The spontaneous Gja8^R205G mutant has a C to G missense mutation

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 Gja8 Mutation: 33 strains or lines available

References

• Original: J:156373 Chang B, et al., Mouse models of ocular diseases. Vis Neurosci. 2005 Sep-Oct;22(5):587-93
• All: 3 reference(s)