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The mutation is an A to T transversion in the 5' splice site consensus sequence at the 3' terminal of exon 1. Decreased protein levels were determined in homozygous mutant mice via Western blot analysis. This is a hypomorphic allele; in hemizygous males, heterozygous females, and homozygous females, the activity level in blood is 20%, 60%, and 15% of normal, respectively. (J:38596)
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
