这种表型突变是在贝勒医学院进行的ENU诱变筛选中发现的。它无法补足已有的Slc4a1tm1Llp突变。这个突变被鉴定为一个A到T的转换,导致第5个跨膜域对应氨基酸541位的错义突变。编码蛋白中,保守的谷氨酸被替换成了缬氨酸。(来源:J:85113)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
单点
隐性
1
17
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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