这个在匹兹堡大学进行的筛选中发现的ENU诱发突变,是b2b1468Clo的一个亚系。其分子突变的原因归咎于cDNA(NM_010060)第35外显子第5966位的A变G替换,这导致了编码蛋白质的第1989位的天冬酰胺被丝氨酸替代(p.N1989S)。(引用:J:175213)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
单点
--
1
3
--

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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