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Mast1em1Dak
Endonuclease-mediated Allele Detail
Nomenclature
Symbol: Mast1em1Dak
Name: microtubule associated serine/threonine kinase 1; endonumclease-mediated mutation 1, David A Keays
MGI ID: MGI:6356292
Synonyms: c.831_833del, L278del
Gene: Mast1  Location: Chr8:85638532-85663988 bp, - strand  Genetic Position: Chr8, 41.32 cM
Mutation
origin
Strain of Origin:  (CBA x C57BL/6J)F1
Mutation
description
Allele Type:    Endonuclease-mediated (Dominant negative)
Mutation:    Intragenic deletion
 
Mutation detailsThe nucleotides encoding the codon for Leucine 278 were deleted by CRISPR/Cas9 mutagenesis, recapitulating a mutation identified in a human variant. (J:268904)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 5 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Mast1 Mutation:  51 strains or lines available
References
Original:  J:268904 Tripathy R, et al., Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. Neuron. 2018 Dec 19;100(6):1354-1368.e5
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/10/2022
MGI 6.19
The Jackson Laboratory