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A T-to-C point mutation in the 5' splice consensus sequence of exon 2 and intron 2 was induced by ENU mutagenesis. Sequencing of RT-PCR products and real-time quantitative RT-PCR indicated that this splice site mutation results in the exclusion of exon 2 which results in the destabilization of the message. Neither protein nor enzyme activity was detected in homozygous mutant mice. (J:87589)
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
