RT-PCR和测序结果显示,exon 13的编码序列被exon 15通过exon 14的splice donor序列的A变G替换,导致了剪接。然而,使用针对exons 32-34编码的细胞质区带的抗体在小鼠视网膜的免疫组化中观察到了正常表达模式。来自视网膜和内耳的cDNA则鉴定出一个新型等位基因,它排除了3到15号外显子,包含6个外分泌域,包括跨膜和细胞质部分(来源:J:97048, J:112247)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
单点
--
1
10
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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