Ankrd16^{rs251476964-G}
Allele Detail

Summary

• Symbol: Ankrd16^{rs251476964-G}
• Name: ankyrin repeat domain 16; rs251476964 SNP allele with the G variant
• MGI ID: MGI:6197557
• Synonyms: Mtsi^CAST
• Gene: Ankrd16 Location: Chr2:11782687-11795140 bp, + strand Genetic Position: Chr2, 9.05 cM
• Alliance: Ankrd16^{rs251476964-G} page

Mutation origin

• Strain of Origin: multiple strains

Mutation description

• Allele Type: Not Applicable (No functional change)
• Mutation: Nucleotide substitutions
• Mutation details: The G SNP at this location results in normal splicing of exon 5 and the production of normal levels of the protein. This variant has been identified in CAST/Ei and CASA/RkJ. The functional consequence is the ability to suppress the phenotype associated with Aars^sti. (J:262421)
• Inheritance: Dominant

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 Ankrd16 Mutation: 25 strains or lines available

References

• Original: J:262421 Vo MN, et al., ANKRD16 prevents neuron loss caused by an editing-defective tRNA synthetase. Nature. 2018 May;557(7706):510-515
• All: 1 reference(s)