This locus can generate two alternatively spliced variants that encode either a lysosomal sialic acid acetylesterase (Lse) or a cytosolic esterase (Cse). Exon 2 is unique to the Lse transcript and was flanked by loxP sites creating the Siaetm1.1Pil allele. A truncated mRNA lacking exon 2 from the gene locus was detected in homozygote splenocytes. Defective Lse activity was inferred from increased 9-O-acetylated alpha2 -6-linked sialic acid moieties on B cells. Cse mRNA was found to be transcribed in these mice. (J:144035)
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基础信息

模型ID
品系来源
等位基因类型
突变
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Intragenic deletion
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1
1
2

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标签摘要:
hm: 纯合子
ht: 杂合子
cn: 条件基因型
cx: 复合型:涉及多基因组
tg: 转基因
ot: 其他:半合子、不确定...
(F): 雌性
(M): 雄性
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N: 正常表型
(#): 上标括号内为相关疾病数量
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