A targeting construct inserted a floxed unit containing the wild type exons 2-6, three stop codons, and a FRT-site flanked Neomycin resistant cassette. A modified exon 2 with a point mutation in exon 2 generating the amino acid substitution of proline for serine at position 29 (P29S) was inserted after the loxP sites. Flp-mediated recombination removed the selection cassette. (J:94077)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count