在染色体11的11,526,9462bp位置(GRCh38)发生的自发的C到T突变,导致了p.R389Q的替换,这个变异是在Otop3m1J这个同样的自发突变小鼠中被发现的。(来源:J:222308)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
B6;129S-Gt(ROSA)26Sortm38(CAG-GCaMP3)Hze/J
Spontaneous
单点
隐性
1
2
2

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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