Katnal2^em3Luik
Endonuclease-mediated Allele Detail

Summary

• Symbol: Katnal2^em3Luik
• Name: katanin p60 subunit A-like 2; endonuclease-mediated mutation 3, Bryan Luikart
• MGI ID: MGI:7618970
• Synonyms: Katnal2(F244L)
• Gene: Katnal2 Location: Chr18:77064844-77135004 bp, - strand Genetic Position: Chr18, 52.02 cM, cytoband E3
• Alliance: Katnal2^em3Luik page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: Using CRISPR/Cas9-mediated gene targeting, an F244L mutation originally detected in a human ASD genomic sequencing was introduced. (J:359964)

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 Katnal2 Mutation: 204 strains or lines available

References

• Original: J:359964 DeSpenza T Jr, et al., Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics. Proc Natl Acad Sci U S A. 2024 Jul 2;121(27):e2314702121
• All: 1 reference(s)