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A G to A nucleotide change at position 49 (c.49G>A) was introduced in exon 3 resulting in a glutamate to lysine substitution at amino acid 17 (p.E17K). A loxP-flanked lacZ and neomycin resistance gene fusion cassette containing a transcription termination signal was inserted upstream of exon 3. Cre-mediated recombination in the ES cells removed the lacZ/neomycin cassette resulting in the expression of the mutant protein. (J:293971)
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
