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中文
sla小鼠中的突变被认为是一个3.5kb的缺失，突变位点位于第9外显子和第12外显子附近。对纯合子小鼠肠来源的mRNA进行RT-PCR分析证实，缺失了582nt序列，推断编码蛋白中缺失了194个氨基酸，形成一个框内缺失。北标分析也确认了纯合子小鼠中产生了较短的mRNA。免疫组化在纯合子小鼠的肠上皮细胞中仅检测到HEPH的染色，位置在细胞核的上部区域。（来源：J:52535, J:149735）
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
