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An A to T substitution within exon 2 results in the amino acid substitution of phenylalanine for tyrosine at position 284 (Y284F). This allele is critical for binding to phosphorylase a. An frt flanked neo cassette used for selection purposes was removed by flp mediated recombination leaving a single frt site upstream of exon 2. (J:157291)
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
