| Primary Identifier | MGI:6759477 | Allele Type | Targeted |
| Attribute String | Humanized sequence | Gene | Cilk1 |
| Transmission | Germline | Strain of Origin | (129S6/SvEvTac x C57BL/6J)F1 |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | A CGA to CAA point mutation resulting in an arginine to glutamine substitution at residue 272 (R272Q) was introduced into exon 8. A loxP-flanked neomycin selection cassette was inserted in the intron downstream of exon 8 and was removed via cre-mediated recombination. The R272Q loss-of-function mutation has been identified as the causative mutation for endocrine-cerebro-osteodysplasia syndrome in humans. |
