在第59位的氨基酸位置,替换一个密码子为色氨酸,模拟南非人群中占主导地位的变异型卟啉症突变。通过Cre介导的重组技术,移除了插入到内皮2号染色体上的loxP引导的诺卡因选择性载体。(来源:J:226160)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
核苷酸替换
--
1
3
1

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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