这种自发出现的frameshift删除位于基因座2的103,308,576bp位置(NCBI Build 37),导致了早发性终止密码子。预测这会导致一个缺失4-7个跨膜区的截短蛋白质。纯合品系包括BDP/J、DBA/1J、DBA/2J、I/LnJ、FVB/NJ、LG/J、MRL/MpJ、NODShi/LtJ、NOR/LtJ、P/J、PL/J、SKHIN/Sprd和SJL/J都是这个删除的纯合子。该变异在杂合群体ICR和CD-1中发生分离(J:237405)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
multiple strains
Spontaneous
基因内删除
--
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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