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Fig. 1 | Molecular Brain

Fig. 1

From: The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis

Fig. 1

Generation of a Polr3b KI mouse model. a Genomic DNA chromatograms of Polr3b exon 6 in WT and Polr3b+/R103H heterozygous mice. The Polr3b mutation c.308G > A (p.R103H) is indicated by a red arrow and the silent intronic mutation is indicated by an orange arrow. b cDNA chromatograms of Polr3b exons 5 and 6 in WT and Polr3b+/R103H heterozygous mice. The Polr3b mutation c.308G > A (p.R103H) mutation is indicated by a red arrow. Both alleles are seen in the heterozygous mice, suggesting that the mutation does not cause abnormal splicing. c Homozygous mice for the Polr3b R103H mutation do not survive embryogenesis. Heterozygous parents were bred and E9.5 embryos or live pups were genotyped. No homozygous mice (Polr3bR103H/R103H) were observed in a total of 54 live pups and 16 embryos genotyped

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Molecular Brain

ISSN: 1756-6606