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This is a hypomorphic allele; in hemizygous males, heterozygous females, and homozygous females, the activity level in blood is ~33%, ~65%, and ~29% of normal, respectively. The mutation has been identified as the deletion of exon 6 (159 base pairs). (J:82809, J:89396)
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
