这种表型突变是在ENU诱变筛选中发现的。随后,在第5外显子发现了一个单一的A到G转换,导致第364位氨基酸由异亮氨酸变为苏氨酸。(来源:J:122872)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
BTBR T+ Itpr3tf/J
Chemically induced
单点
半显性
1
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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