Point mutant knockin mouse model is a mouse in which one or more nucleotides are replaced by mutant nucleotides in the genome. This may result in amino acid changes within the protein sequence, and transcription terminated, thereby significantly affecting the normal function of the protein. Point mutation mouse models are widely used to study the role of specific nucleotides or amino acids in genetic elements or proteins, as well as to mimic human genetic diseases.
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系統名：C57BL/6Smoc-Dmdem1(Q995X)Smoc
維持形態：Repository Live | SMOC番号：NM-KI-18026
病気の予測：Duchenne muscular dystrophy
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系統名：C57BL/6Smoc-Dnmt3atm1(LSL-R878H)Smoc
維持形態：Sperm cryopreservation | SMOC番号：NM-KI-230147
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系統名：C57BL/6Smoc-Erbb4em1(R1259W)Smoc
維持形態：Embryo cryopreservation | SMOC番号：NM-KI-200282
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系統名：C57BL/6Smoc-Fbn1em1(C1041G)Smoc
維持形態：Repository Live | SMOC番号：NM-KI-200303
病気の予測：Marfan syndrome
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系統名：C57BL/6Smoc-Fgf23em1(R176Q)Smoc
維持形態：Embryo cryopreservation | SMOC番号：NM-KI-200248
病気の予測：hypophosphatemic rickets
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