A gene trap cassette was inserted into intron 1. Western blot analysis confirmed the absence of protein expression in the brain, heart, lung, spleen and kidney of homozygous mice. Although protein is missing in most tissues examined, use of an alternative promoter and exon 1 (exon 1A) located downstream of the gene trap cassette leads to exclusive expression of a full-length and fully functional protein in the testis of homozygous mutant males. Sequencing of mRNA variants in testis revealed that only the shorter transcript starting from exon 1A is present at wild-type expression levels. (J:171441, J:311959)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Gene trapped
Insertion of gene trap vector
--
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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