Kif1a^em2Lutzy
Endonuclease-mediated Allele Detail

Summary

• Symbol: Kif1a^em2Lutzy
• Name: kinesin family member 1A; endonuclease-mediated mutation 2, Cathleen Lutz
• MGI ID: MGI:6864483
• Synonyms: Kif1a^I304I,P305L
• Gene: Kif1a Location: Chr1:92943186-93029673 bp, - strand Genetic Position: Chr1, 46.74 cM, cytoband E1-E2
• Alliance: Kif1a^em2Lutzy page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: CRISPR/cas9 genome editing used guide RNAs (TCAATACGGAGTCTCGGTAA, GTCAATACGGAGTCTCGGTA, and TGTCAATACGGAGTCTCGGTA) to target exon 11. Donor DNAs were created encoding a P305L mutation (CCT to CTT, proline to leucine) and a silent mutation I304I (ATC to ATA) that introduces a Setl site. The P305L (proline to leucine) mutation was identified in children with KIF1A-associated neurological disorder (KAND), a neurodegenerative condition. (J:101977)

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 Kif1a Mutation: 95 strains or lines available

References

• Original: J:101977 The Jackson Laboratory, Information obtained from The Jackson Laboratory, Bar Harbor, ME. Unpublished. 2005-2017
• All: 1 reference(s)