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An A to G transition was targeted at exon 4 of the locus to mutate residue 164 from a lysine to an arginine (K164R). For targeting, a Frt-flanked PGK selection cassette was inserted into intron 1 with one loxP site upstream of the selection cassette. Due to the presence of several psuedogenes that make targeting difficult, homologous recombination of ES cells was verified by multiplex ligation-dependent probe amplification using primers with intronic sequence. (J:126595)
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
