A gene trap vector (SA-Bgeo-pA-PGK-BTK-SD) inserted in intronic sequence approximately 20 bp upstream of the endogenous start codon in exon 2. Two transcripts were identified by 5' RACE PCR, each arising from one of the two untranslated exons (1a and 1b). Protein was undetected by Western blot analysis of homozygous mutant cerebral cortex and hippocampus tissues. The pattern of beta-galactosidase activity was similar to the expression pattern of the endogenous gene. (J:83377)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S5/SvEvBrd
Gene trapped
Insertion of gene trap vector
--
1
2
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

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PMID
Journal
Year
IF
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