Mast1^em1Dak
Endonuclease-mediated Allele Detail

Summary

• Symbol: Mast1^em1Dak
• Name: microtubule associated serine/threonine kinase 1; endonuclease-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
• Alliance: Mast1^em1Dak page

Mutation origin

• Strain of Origin: (CBA x C57BL/6J)F1

Mutation description

• Allele Type: Endonuclease-mediated (Dominant negative)
• Mutation: Intragenic deletion
• Mutation details: The nucleotides encoding the codon for Leucine 278 were deleted by CRISPR/Cas9 mutagenesis, recapitulating a mutation identified in a human variant. (J:268904)

Disease models

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

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: 65 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)