prune突变是在一只ENU诱变雄性小鼠的G3代后代中发现的,它位于基因(Genbank: NM__021877)的第18个外显子,该基因总共有20个。这个突变是一个在第3938位由T变为G的转换,导致在蛋白质的第1082位由保守的酪氨酸替换为天冬氨酸(Y1082D)。(来源:J:138686)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
单点
隐性
1
4
--

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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