A floxed region containing exon 1 and approximately 1.1 kb of upstream sequence was deleted by the expression of cre recombinase in vitro. Though sequence analysis showed the deletion to generate an in frame translational start codon at position 146, a truncated protein product was undetected by Western blot analysis of homozygous mutant mice. In a subsequent publication (J:150427), the authors demonstrate that that the upstream loxP site was inserted in a separate gene, Pcid2, that lies in a head-to-head configuration with Cul4a. This loxP site, inserted in a NotI restriction site, lies downstream of the putative translational start site of the gene. Thus the cre-mediated excision potentially disrupted both genes. RNAi knockdown of the Pcid2 transcript in ES cells suggests the embryonic lethality associated with this allele is at least partially due to disruption of the Pcid2 gene. (J:78032, J:150427)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
129S/SvEv
Targeted
Insertion, Intergenic deletion, Intragenic deletion
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5

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

Title
PMID
Journal
Year
IF
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