C57BL/6J-Kif5a^em5Lutzy/J

Stock number: 032680
Product name: Kif5a del115
Research areas: Mouse/Human Gene Homologs, Neurobiology Research

Description

This CRISPR/Cas9 generated mutant of the Kif5a gene carries a 115 nucleotide deletion mutation in exon 10. The targeted Kif5a gene encodes a protein in a microtubule-dependent motor complex. Mutations in this gene have been associated with Spastic Paraplegia 10, Neonatal Intractable Myoclonus, and susceptibility to Amyotrophic Lateral Sclerosis 25.

Detailed description

CRISPR/Cas9 endonuclease-mediated genome editing of the Kif5a, kinesin family member 5A, gene was used to introduce a 115 nucleotide deletion mutation in exon 10. The targeted Kif5a gene encodes a protein in a microtubule-dependent motor complex. Mutations in this gene have been associated with Spastic Paraplegia 10, Neonatal Intractable Myoclonus, and susceptibility to Amyotrophic Lateral Sclerosis 25. Heterozygotes are viable and fertile. Homozygotes are not viable.

Development

Plasmids encoding a signal guide RNA designed to introduce a 115 nucleotide deletion mutation in exon 10 of the Kif5a gene and the cas9 nuclease were introduced into the cytoplasm C57BL/6J-derived fertilized eggs with well recognized pronuclei. Correctly targeted embryos carrying the deletion (CTGCTCCTGCTCTAGaaaagctacgtgcc/del115/acgctcatgtttggacagcgGTCAGTATCAGA; lower case nucleotides are exon 10 sequences with flanking intronic DNA in upper case) were transferred to pseudopregnant females. Correctly targeted pups were identified by sequencing and PCR and further bred to C57BL/6J (Stock No. 000664) to develop the colony.

Allele

Symbol: Kif5a^em5Lutzy
Name: endonuclease-mediated mutation 5, Cathy Lutz
MGI accession ID: MGI:6870524
Generation method: Endonuclease-mediated
Attributes: Not Specified
Synonyms: Kif5a^del115
Marker symbol: Kif5a
Marker name: kinesin family member 5A
Marker synonyms: ALS25; D10Bwg0738e; D12S1889; Khc; Kif5; Kns; MY050; NEIMY; NKHC; SPG10
Chromosome: 10
Strain of origin: C57BL/6J
Molecular note: CRISPR/cas9 genome editing used a signal guide RNA designed to introduce a 115 nucleotide deletion mutation in exon 10. The deletion is (CTGCTCCTGCTCTAGaaaagctacgtgcc/del115/acgctcatgtttggacagcgGTCAGTATCAGA; lower case nucleotides are exon 10 sequences with flanking intronic DNA in upper case).