Primary Identifier | MGI:5573238 | Allele Type | Targeted |
Attribute String | Null/knockout | Gene | Cdkl5 |
Inheritance Mode | Semidominant | Transmission | Germline |
Strain of Origin | (C57BL/6 x 129P2/OlaHsd)F1 | Is Recombinase | false |
Is Wild Type | false |
description | According to EMMA, the parental ES cell line is A9, although ES cell line A8 was given in the original publication J:209635. |
molecularNote | Exon 4, which was flanked by loxP sites 806 bp upstream and 347 bp downstream of the exon, has been deleted by cre recombinase, and a FRT-flanked neomycin resistance cassette that followed the second loxP site was deleted by flp recombinase. CDKL5 protein was shown to be present at reduced levels in female mice heterozygous for the mutation and absent in homozygous mutant female and hemizygous male mice by immunoblot analysis of whole brain extracts and immunofluorescent imaging of brain sections. |