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Allele : Katnal2<em1Luik> katanin p60 subunit A-like 2; endonuclease-mediated mutation 1, Bryan Luikart

Primary Identifier	MGI:7618968	Allele Type	Endonuclease-mediated
Attribute String	Null/knockout	Gene	Katnal2
Strain of Origin	C57BL/6J	Is Recombinase	false
Is Wild Type	false

molecularNote

Using CRISPR/Cas9-mediated gene targeting, a 17bp deletion in exon 2 of the Katnal2 gene was introduced, resulting in loss of expression of all "long" splice variants.

mutations:
Intragenic deletion

synonyms:
Katnal2 Delta17,
Katnal2 Delta17

earliestPublication:
DeSpenza T Jr, et al. (2024) Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics. Proc Natl Acad Sci U S A 121(27):e2314702121

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

Other

1 Carried By

0 Driven By

2 Publication categories

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