Primary Identifier | MGI:1857896 | Allele Type | Targeted |
Attribute String | Humanized sequence | Gene | Cftr |
Transmission | Germline | Strain of Origin | 129S/SvEv-Gpi1<c> |
Is Recombinase | false | Is Wild Type | false |
molecularNote | A three base pair deletion results in the deletion of phenylalanine codon 508 (p.F508del). An HPRT minigene was also inserted into intron 11 in reverse transcriptional orientation relative to the gene. A mutant transcript is expressed and is identified in salivary glands, lungs, pancreas, kidney and small intestine at approximately 15% of the wild-type level, except in the salivary glands at 3%. The deletion mimics the deltaF508 mutation found in human cystic fibrosis patients. |