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The targeting construct introduced into intron 13 a loxP site, minigene contains exons 14 through 18 and an FRT and loxP site flanked neomycin resistance cassette. The mini gene exon 14 sequence was modified to introduce the nucleotide substitution of AG to CA that results in the amino acid substitution of glutamine for arginine at position 367 (R367Q). (J:257751)
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
