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Cyclin M2 (CNNM2) knockout mice show mild hypomagnesaemia and developmental defects
Gijs A C Franken1, Murat Seker2, Caro Bos1
1Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, P.O. Box 9101, 6500HB, Nijmegen, The Netherlands.
Scientific Reports
|April 16, 2021
Summary
Cyclin M2 (CNNM2) is crucial for embryonic development and magnesium (Mg2+) balance. Loss of CNNM2 in mice causes hypomagnesaemia and increased mineral excretion, suggesting a role in intestinal absorption.
Area of Science:
- Biochemistry
- Genetics
- Physiology
Background:
- Mutations in Cyclin M2 (CNNM2) cause hypomagnesaemia, seizures, and intellectual disability.
- CNNM2 is thought to be essential for renal magnesium (Mg2+) reabsorption, but its precise function is debated.
Purpose of the Study:
- To investigate the role of CNNM2 in Mg2+ homeostasis using a CRISPR/Cas9-generated Cnnm2 knockout mouse model.
- To assess the impact of CNNM2 deficiency on embryonic development and Mg2+ balance in mice.
Main Methods:
- Generated Cnnm2 knockout mice using CRISPR/Cas9 technology.
- Analyzed serum Mg2+ and Ca2+ levels, fecal mineral excretion, and gene expression in kidneys and colon.
- Performed microcomputed tomography analysis on femurs.
Main Results:
- Cnnm2-/- mice exhibited significantly lower serum Mg2+ and reduced viability.
- Adult Cnnm2+/- mice showed mild hypomagnesaemia, increased serum Ca2+, and elevated fecal Mg2+ and Ca2+ excretion.
- No significant changes in Trpm6, Trpm7, or Slc41a1 expression or bone morphology were observed based on genotype.
Conclusions:
- CNNM2 is vital for embryonic development and Mg2+ homeostasis.
- The data suggest a previously unrecognized role for CNNM2 in intestinal Mg2+ absorption, contributing to deficiency in mice and potentially in patients.
