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EN
Exon 11 was replaced with a modified exon 11 in which nucleotide substitutions (AGA to GCC) result in the amino acid substitution of alanine for arginine at position 579 (R579A). This mutation results in a constitutively active protein. Cre-mediated recombination removed the floxed neomycin resistance cassette inserted downstream of the modified exon 11. (J:200838)
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
