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Two mutations were inserted into exon 21: a silent mutation in codon 1357 from CTG to CTC, and an AAG to AGG in 1361 that produced the replacement of the active site lysine by an arginine. Western blot of mutant MEFs demonstrated the expression of protein was comparable to wild-type, and inactivation of the kinase activity was validated in vivo. (J:101350)
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
