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Exon 6 was disrupted by the insertion of a neomycin selection cassette. Shortened transcipts were detected in homozygous mutant ES cells by RT-PCR analysis, however neither normal or aberrantly sized protein was detected by Western blot analysis. Assays of cell extracts indicated an ablation of endogenous protein activity. (J:50221)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
