Clcn2^nmf289
Chemically induced Allele Detail

Summary

• Symbol: Clcn2^nmf289
• Name: chloride channel, voltage-sensitive 2; neuroscience mutagenesis facility, 289
• MGI ID: MGI:5912306
• Gene: Clcn2 Location: Chr16:20521714-20536496 bp, - strand Genetic Position: Chr16, 12.5 cM
• Alliance: Clcn2^nmf289 page

Mutation origin

• Strain of Origin: BALB/cByJ or C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: The mutation is identified as G to T mutation at nucleotide position 1445, resulting in a glycine to valine missense mutation at residue 482 (G482V). The mutation occurs in a transmembrane segment that contains part of the chloride ion selectivity filter. (J:243745)

Disease models

Expression

In Structures Affected by this Mutation:

5 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 Clcn2 Mutation: 40 strains or lines available

References

• Original: J:243745 Krebs MP, et al., Mouse models of human ocular disease for translational research. PLoS One. 2017;12(8):e0183837
• All: 2 reference(s)