A targeting vector replaced exon 3. RT-PCR of brain tissue from E13.5 homozygous mutant embryos did not detect 368 bp wild-type product but did detect a 268-bp product. Western analyses using polyclonal antibodies to either N-terminal or mid-protein sequences did not detect protein in brain tissue from homozygous mutant E13.5 embryos. The exon 3 deletion is an in-frame deletion causing only the major isoform of Trp53bp2 to be deleted completely; low levels of shorter forms of Trp53bp2 can be expressed. Therefore Trp53bp23 acts as a hypomorphic allele. (J:108701, J:240594)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion, Intragenic deletion
--
1
--
8

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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