Dyrk1a^em1Kzy
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dyrk1a^em1Kzy
• Name: dual-specificity tyrosine phosphorylation regulated kinase 1a; endonuclease-mediated mutation 1, Kazuhiro Yamakawa
• MGI ID: MGI:6149776
• Synonyms: Dyrk1a^-
• Gene: Dyrk1a Location: Chr16:94370869-94496376 bp, + strand Genetic Position: Chr16, 55.3 cM
• Alliance: Dyrk1a^em1Kzy page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Insertion
• Mutation details: CRISPR/Cas9 technology generated a single nucleotide insertion of a C at position 134 in exon 3 (c.134insC) resulting in a frameshift and truncation of the protein product. The five highest scoring predictive offtargets were located in either non-coding regions or intronic segments. (J:259596)

Disease models

Expression

In Structures Affected by this Mutation:

4 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 Dyrk1a Mutation: 112 strains or lines available

References

• Original: J:259596 Raveau M, et al., DYRK1A-haploinsufficiency in mice causes autistic-like features and febrile seizures. Neurobiol Dis. 2018 Feb;110:180-191
• All: 1 reference(s)