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EN
Nucleotide substitutions (TTCTCTTTT to GCTTCTGCT) within exon 3 result in the amino acid substitutions of alanine, serine and alanine for phenylalanine, serine and phenylalanine at positions 93, 94 and 95. These mutations in the Erk docking site (DEF2) abolishes Erk1/2 binding. This allele produces only an EL isoform lacking the phosphorylation sites associated with degradation of the protein. (J:203181)
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
