Exon 8 was disrupted by the insertion of a construct containing adjacent thymidine kinase and neomycin resistance genes. Low levels of a truncated transcript were detected via Northern blot analysis of total RNA isolated from homozygous mutant brain tissue (data not shown). Western blot analysis of protein extracts from homozygous mutant brain tissue showed an absence of the four isoforms detected in extracts from normal brain tissue, though low levels of a 190kD aberrant transcript were detected. (J:43838)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129/Sv
Targeted
Insertion
--
1
6
24

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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