Kif5a^em1Kolb
Endonuclease-mediated Allele Detail

Summary

• Symbol: Kif5a^em1Kolb
• Name: kinesin family member 5A; endonuclease-mediated mutation 1, Stephen J Kolb
• MGI ID: MGI:8270893
• Synonyms: Kif5a^c.3005+1GA
• Gene: Kif5a Location: Chr10:127061565-127099217 bp, - strand Genetic Position: Chr10, 74.5 cM
• Alliance: Kif5a^em1Kolb page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: The first nucleotide of intron 27 was changed from G to A (c.3005+1G>A) using sgRNAs and an ssODN template with CRISPR/Cas9 technology, eliminating the G-GT splice donor site by changing it to G-AT. As a result, the number of correctly spliced transcripts from this allele are severely reduced and in the majority of transcripts exon 27 is skipped. The out-of-frame joining of the exon 26 and 28 reading frames results in a string of 37 non-endogenous amino-acids replacing the wild-type C terminus in the encoded protein. Though mRNA levels are not affected, protein levels in neuronal tissues are reduced by more than 50%, which affects motor unit (MU) recovery after injury. The mutation is the equivalent of the c.3020+1G>A human mutation associated with amyotrophic lateral sclerosis (ALS). (J:374864)

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 Kif5a Mutation: 55 strains or lines available

References

• Original: J:374864 Rich KA, et al., Impaired motor unit recovery and maintenance in a knock-in mouse model of ALS-associated Kif5a variant. Neurobiol Dis. 2023 Jun 15;182:106148
• All: 1 reference(s)