Myt1l^em1Jdd
Endonuclease-mediated Allele Detail

Summary

• Symbol: Myt1l^em1Jdd
• Name: myelin transcription factor 1-like; endonuclease-mediated mutation 1, Joseph D Dougherty
• MGI ID: MGI:6741516
• Synonyms: Myt1l S710fsX
• Gene: Myt1l Location: Chr12:29578383-29973212 bp, + strand Genetic Position: Chr12, 11.86 cM
• Alliance: Myt1l^em1Jdd page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Null/knockout)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Using a gRNA (GCTCTTGCTACACGTGCTACNGG) and ssODN templates (accagcagctatgcacctagcagcagcagcaacctcagctgtggtggtggcagGcagcgccTCCagTacgtgtagcaagagcagctttgactacacacatgacatggaggccgcacacatggcagcc) with CRISPR/Cas9 technology, an extra guanine was inserted at coding nucleotide position 2129 (NM_001093775.1:c.2129dup) in exon 15, resulting in an amino acid change and frameshift with a premature stop codon (p.(Ser710Argfs*5)). This mutation is similar to that seen in a patient with Autism Spectrum Disorder (ASD). Additional mutations that affect the new reading frame (but not the original) were created to prevent homozygous mutation. Immunofluorescence analysis of neocortices from E14 homozygous mice indicated the absence of protein expression. Protein expression in heterozygous mice is reduced by 25% and no truncated protein expression is detected. (J:101977, J:321206)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
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: 1 strain available Cell Lines: 0 lines available
• Carrying any Myt1l Mutation: 71 strains or lines available

References

• Original: J:101977 The Jackson Laboratory, Information obtained from The Jackson Laboratory, Bar Harbor, ME. Unpublished. 2005-2017
• All: 2 reference(s)