Cre mediated recombination resulted in the loss of a 1060-bp fragment containing exon 4 and a PGK-hygro cassette. RT-PCR failed to detect the 712-bp wild-type transcript, but did detect a 497-bp product. Sequencing revealed the predicted splicing of exon 3 to exon 5, resulting in a shift in the ORF in exon 5 that created a stop codon 30 nucleotides downstream. The transcript encodes a truncated protein missing 621 of the 713 amino acids in the normal protein. The J1 ES cell line used to create this allele also carries a homozygous truncation of the Poli gene. (J:105034)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S4/SvJae
Targeted
Intragenic deletion
--
1
1
6

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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