Primary Identifier | MGI:2182621 | Allele Type | Targeted |
Attribute String | Humanized sequence | Gene | Prph2 |
Transmission | Germline | Strain of Origin | (129X1/SvJ x 129S1/Sv)F1-Kitl<+> |
Is Recombinase | false | Is Wild Type | false |
molecularNote | A 1 bp deletion found in an autosomal dominant form of human retinitis pigmentosa was introduced into codon 307 of the mouse gene in conjunction with a loxP-neo cassette situated in the 3' untranslated region (500 bp from the 307 mutation) via homologous recombination. Homozygous mutant animals were identified by PCR genotyping and Southern blot analysis and the presence of the codon 307 mutation was verified by RT-PCR of cDNA from retinas of homozygous mutant animals. |