第六外显子被替换成一个点突变的位置,这个突变由C变为A,导致第141位氨基酸由脯氨酸替换为谷氨酰胺(即P141Q)。通过Cre介导的重组,去除了下游修改后的尼古丁抗性基因簇。这种修改模仿了人类 autosomal-dominant 牙齿发育不良类型I患者中发现的一种情况。实时PCR确认了纯合子下颌组织中转录表达量的降低。(来源:J:240559)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129S6/SvEvTac x C57BL/6J)F1
Targeted
Insertion, Single point
--
1
8
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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