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An Asp168Ala mutation was inserted into exon 7 via homologous recombination to create a kinase dead mutation. However expression of this allele was unexpectedly low and sequencing detected a single nucleotide polymorphism resulting in a Cys211Arg mutation in the ES cells. No RNA expression is detected in homozygous MEFs or in the cortex of homozygous mice. (J:107771)
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
