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Dyrk1atm1Mla
Targeted Allele Detail
Nomenclature
Symbol: Dyrk1atm1Mla
Name: dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1a; targeted mutation 1, Maria L Arbones
MGI ID: MGI:2386937
Synonyms: Dyrk1a-, Dyrk1atm1Lmr
Gene: Dyrk1a  Location: Chr16:94570010-94695067 bp, + strand  Genetic Position: Chr16, 55.3 cM
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 details3.2 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)
Phenotypes
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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:  89 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:  13 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory