在酪氨酸酶基因的第一个外显子第308位,胸腺嘧啶(Guanosine)被胞嘧啶(Cytosine)替换,复制了导致酪氨酸酶蛋白第103位丝氨酸替换为胱氨酸的致病性Tyrc突变;随后插入了一段由Frt序列 flank的 puromycin抗性基因元件,位于第1内含子。通过Flp重组酶,选择性元件被剔除,留下一个单独的Frt序列在内含子中。(来源:J:213411)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6NTac
Targeted
Insertion, Single point
隐性
1
14
2

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

References Literature

Title
PMID
Journal
Year
IF
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