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The transgene was generated with a modified version of human genomic BAC RP11-150L1. Using recombineering, an A>G substitution was introduced that resulted in a D299G (p.Asp299Gly) mutation in the translated petide. The copy number of this allele, as determined by RT-PCR, is 7. (J:248428)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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
