Ankrd16^{rs251476964-A}
Allele Detail

Summary

• Symbol: Ankrd16^{rs251476964-A}
• Name: ankyrin repeat domain 16; rs251476964 SNP allele with the A variant
• MGI ID: MGI:6197555
• Synonyms: Msti^B6
• Gene: Ankrd16 Location: Chr2:11782687-11795140 bp, + strand Genetic Position: Chr2, 9.05 cM
• Alliance: Ankrd16^{rs251476964-A} page

Mutation origin

• Strain of Origin: multiple strains

Mutation description

• Allele Type: Not Applicable (Null/knockout)
• Mutation: Nucleotide substitutions
• Mutation details: The A SNP at this location results in an alternate splice site and the inclusion of a 138 bp cryptic exon (5'). QRT-PCR confirmed reduced transcript levels, likely due to nonsense mediated decay. Western blot analysis confirmed reduced protein levels in heterozygotes. This variant was identified in C57BL/6J and is present in multiple strains (determined by SNP analysis and confirmed by the lack of modifier of Aars^sti phenotype activity in MOLF/Ei, DBA/2J, BALB/cJ and C3H/HeJ crosses). (J:262421)

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)