Dyrk1a^tm1Mla
Targeted Allele Detail

Summary

• Symbol: Dyrk1a^tm1Mla
• Name: dual-specificity tyrosine phosphorylation regulated kinase 1a; targeted mutation 1, Maria L Arbones
• MGI ID: MGI:2386937
• Synonyms: Dyrk1a^-, Dyrk1a^tm1Lmr
• Gene: Dyrk1a Location: Chr16:94370869-94496376 bp, + strand Genetic Position: Chr16, 55.3 cM
• Alliance: Dyrk1a^tm1Mla page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:78597
• Parent Cell Line: E14.1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: 3.2 kb of sequence encompassing all of exon 7 and most of exon 8 was replaced by a neomycin selection cassette inserted by homologous recombination. The deleted region encoded 112 amino acids involved in the bipartite nuclear localization signal, an aspartate rich consensus sequence putatively involved in the regulation of kinase activity, and the first three subdomains of the catalytic domain pertinent to ATP binding activity. Sequence analysis of an RT-PCR amplification product showed an aberrant transcript in which exon 6 spliced to exon 9. Both Western blot analysis and in situ hybridization indicated that a stable protein was not produced from the aberrant transcript. (J:78597)

Expression

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	14 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 Dyrk1a Mutation: 115 strains or lines available

References

• Original: J:78597 Fotaki V, et al., Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice. Mol Cell Biol. 2002 Sep;22(18):6636-47
• All: 26 reference(s)