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Allele : Mast1<em1Dak> microtubule associated serine/threonine kinase 1; endonuclease-mediated mutation 1, David A Keays

Primary Identifier	MGI:6356292	Allele Type	Endonuclease-mediated
Attribute String	Dominant negative	Gene	Mast1
Strain of Origin	(CBA x C57BL/6J)F1	Is Recombinase	false
Is Wild Type	false

molecularNote

The nucleotides encoding the codon for Leucine 278 were deleted by CRISPR/Cas9 mutagenesis, recapitulating a mutation identified in a human variant.

mutations:
Intragenic deletion

synonyms:
L278del,
c.831_833del,
c.831_833del,
L278del

earliestPublication:
Tripathy R, et al. (2018) Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. Neuron 100(6):1354-1368.e5

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

Other

1 Carried By

0 Driven By

3 Publication categories

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