cblC mmachc hg13 zebrafish mutant
The germline cblC mutant hg13 shows elevated methylmalonic acid, retinopathy, juvenile mortality and craniofacial defects responsive to metabolic intervention.
模型身份
- 模型名称
- cblC mmachc hg13 zebrafish mutant
- 物种
- zebrafish
- 基因型／合子状态
- mmachc hg13
- 等位基因
- hg13
生物学特性
- 适用研究问题
- Which zebrafish models reproduce cblC-type combined methylmalonic acidemia and homocystinuria.
- 模型局限
- Phenotype severity depends on the hg13 allele; developmental timing differs from mouse and human cblC disease.