Dyrk1a^em2Ics
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dyrk1a^em2Ics
• Name: dual-specificity tyrosine phosphorylation regulated kinase 1a; endonuclease-mediated mutation 2, Mouse Clinical Institute
• MGI ID: MGI:8278413
• Synonyms: Dyrk1a^K188R
• Gene: Dyrk1a Location: Chr16:94370869-94496376 bp, + strand Genetic Position: Chr16, 55.3 cM
• Alliance: Dyrk1a^em2Ics page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:377054
• Parent Cell Line: TB1 (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Single point mutation
• Mutation details: Lysine codon 188 (AAA) in exon 6 was changed to arginine (AGA) (p.K188R) and a loxP site, a neomycin resistance gene cassette, an FRT site flanked auto-excision protamine-cre cassette and a second loxP site were inserted into intron 6 using a crRNA (equivalent to AATGTGGCCTGGCTATAAT) with CRISPR/Cas9 technology. The mutation renders the encoded protein kinase-dead, which affects cortical interneuron development.. (J:377054)

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 Dyrk1a Mutation: 114 strains or lines available

References

• Original: J:377054 Hinckelmann MV, et al., Interneuron migration defects during corticogenesis contribute to Dyrk1a haploinsufficiency syndrome pathogenesis. Mol Psychiatry. 2025 Nov;30(11):5227-5244
• All: 1 reference(s)