Complete deletion of Slc52a2 causes embryonic lethality in mice

Congyun Jin, Yoshihiro Matsui, Atsushi Yonezawa, Satoshi Imai, Takashi Ogihara, Kotaro Itohara, Shunsaku Nakagawa, Takayuki Nakagawa, Kazuo Matsubara

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)


Riboflavin (vitamin B2) plays an important role in cellular growth and function. Riboflavin transporter 2 (RFVT2) is widely expressed in several tissues, especially in the brain and salivary glands, and plays an important role in the tissue disruption of riboflavin. During the last 10 years, mutations in SLC52A2 have been documented in patients with a rare neurological disorder known as Brown–Vialetto–Van Laere syndrome. However, no suitable animal model of this disease has been reported. Here, we aimed to clarify the physiological role of RFVT2 using Slc52a2-mutant mice. The appearance, body weight, and plasma riboflavin concentration of Slc52a2 heterozygous mutant (Slc52a2+/−) mice were similar to those of wild-type (WT) mice. However, intercrossing between Slc52a2+/− mice failed to generate Slc52a2 homozygous mutant (Slc52a2−/−) mice. This suggested that Slc52a2 gene deficiency results in early embryonic lethality. Our findings suggested that RFVT2 is essential for growth and development, and its deletion may influence embryonic survival.

Original languageEnglish
Pages (from-to)283-286
Number of pages4
JournalBiological and Pharmaceutical Bulletin
Issue number2
Publication statusPublished - 2021 Feb 1
Externally publishedYes


  • Embryonic lethality
  • Mouse model
  • Riboflavin transporter 2

ASJC Scopus subject areas

  • Pharmacology
  • Pharmaceutical Science


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