这种突变是一个14.3千碱基的缺失,涉及酪氨酸酶基因,从exon 1的5'端起,包括了最小的启动子区域,延伸到exon 2的3'端,长度从940bp到3.75kb。这个突变是在EUCOMM胚胎干细胞克隆EPD0176_3_A10中自发产生的,这个克隆是由JM8.N4胚胎干细胞衍生而来的。(来源:J:188986)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6N
Spontaneous
基因内删除
隐性
1
14
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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