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中文
这种自发突变是一个在exon 14的4个碱基对缺失，预测会导致第409位之后的移位，并将84个羧基端氨基酸替换为45个全新氨基酸。QPCR数据显示，纯合胚胎心脏的表达减少了42%，成年肝脏（E15.5）、心脏和成年红细胞的脯酸酶活性降低至无法检测水平。（来源：J:215150）
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 |
|---|
References Literature
Title
PMID
Journal
Year
IF
