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A C to T point mutation at codon 131 was introduced to the gene and a floxed PGK-neo cassette was inserted into the downstream exon via homologous recombination. The point mutation results in an arginine to cysteine substitution. Transient expression of cre recombinase in correctly targeted ES cells deleted the floxed PGK-neo cassette leaving a single loxP site in its place. The targeted allele was confirmed by Southern blot and sequence analysis. (J:67320)
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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References Literature
Title
PMID
Journal
Year
IF
