在对ENU突变体进行发育缺陷筛选时,发现了小鼠。这些小鼠cDNA(ENSMUST00000099494)中第4299位的G变为了A,导致在ATPase域的第1330位由Val转换成了Met。 Western blot结果显示,蛋白表达量只有对照组的10%。(来源:J:173663)

Basic Information

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