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

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6 x 129S4/SvJae)F1
Targeted
Nucleotide substitutions
--
1
20
3

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

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PMID
Journal
Year
IF
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