This phenotypic mutant was identified in an ENU mutagenesis screen. Targeted exome sequencing and SNP analyses identified a single coding mutation, a T to C mutation located in exon 73 of the Dnah1 gene, resulting in a tyrosine to histidine change at amino acid 3897 (Y3897H). GRCm39 has the T to C mutation resulting in the Y to H substitution at amino acid 3898 (p.Y3898H). The mutation site was further confirmed by genomic PCR and RT-PCR followed by sequencing. This mutation does not result in failure to produce DNAH1 protein or its degradation. (J:308831)
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基础信息

模型ID
品系来源
等位基因类型
突变
遗传方式
相关基因
相关疾病
参考文献
C57BL/6J
Chemically induced
Single point
Recessive
1
4
3

表型特征

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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