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An A to T transversion is found at position 1096 in exon 9. This results in a missense amino acid change from isoleucine to phenylalanine at position 366. Western blot analysis did not find any significant change in protein expression although glucose phosphorylating activity was significantly impaired. This mutation was generated as part of the Harwell/SB ENU mutagenesis project. (J:90389, J:137483)
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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References Literature
Title
PMID
Journal
Year
IF
