The endogenous gene was deleted and replaced with Gjb1 genomic sequence extending from 158 bp upstream of the start codon to 171 bp downstream of the stop codon. RT-PCR verified the ablation of endogenous expression and showed that the Gjb1 sequence was transcribed. The absence of endogenous protein was demonstrated by Western blot ananlysis of brain tissue, which also confirmed the presence of the Gjb1 protein. (J:65112)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd-Hprt1b-m3
Targeted
Insertion, Intragenic deletion
--
1
13
7

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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