This allele was derived from the Palb2tm1.1Dli allele, which has a loxP site in intron 1 and an FRT site flanked neomycin resistance gene cassette and a second loxP iste in intron 3. A mutation was introduced into part of exon 2 coding for the CC (coiled-coil) domain using site-directed mutagenesis. The TTGAAAAAG>GCAGCAGCT nucleotide substitution changes peptide sequence LeuLysLys to AlaAlaAla in the encoded protein (p.(L24_K26delinsAAA)). This amino-acid trio represents residues 15-18 of the 33 aa CC motif and the substitution negatively affects binding to Brca1. The neo cassette was removed through flp-mediated recombination. (J:267154)
Basic Information
(C57BL/6 x 129S4/SvJae)F1
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count