| Primary Identifier | MGI:5803717 | Allele Type | Targeted |
| Attribute String | Not Specified | Gene | Notch2 |
| Transmission | Germline | Strain of Origin | 129 or C57BL/6J |
| Is Recombinase | false | Is Wild Type | false |
| description | In J:230045, authors state "ES cells derived from an F1 129Sv/C57BL/6J embryo." |
| molecularNote | A 6955C to T mutation was introduced into the locus, creating a stop codon in exon 34 and leading to a Q2319X amino acid change with a truncated protein of 2318 amino acids. In addition a loxP flanked PGK-neo cassette was inserted about 400 nucleotides upstream of exon 34 which was removed via cre-mediated recombination. This mutation corresponds to the 6949C to T mutation in the human gene in Hajdu Cheney Syndrome. qRT-PCR confirmed expression of mutant RNA transcript. |
