These mice carry an ENU induced mutation that causes altered brain/body development and lethality in late homozygous embryos.
Pat Levitt, Vanderbilt University
Homozygotes die at approximately embryonic day 17.5 (E17.5), but heterozygotes are viable and fertile. Homozygous embryos are nearly colorless, are approximately half the size of heterozygous and wildtype littermates, and show altered or delayed brain/body development. There may be a vascular defect. Decreased expression of this gene has previously been implicated with cases of schizophrenia.
This mutation was generated by ethylnitrosourea (ENU) mutagenesis in C3H/HeH males. Foundation stock was selected for reduced enzymatic activity of the associated gene. A point mutation (T to A) creates a splicing defect that eliminates exon 8. Mutants were crossed with 101/H and subsequently backcrossed to C57BL/6J for ten generations by the donating laboratory.
|Allele Name||mutant 1 Harwell|
|Allele Type||Chemically induced (ENU) (Hypomorph)|
|Gene Symbol and Name||Mdh1, malate dehydrogenase 1, NAD (soluble)|
|Strain of Origin||C3H/HeH|
|Molecular Note||This allelic variant was generated by ENU mutagenesis. Enzyme assays suggest that the mutation is a null or severe hypomorph.|
|Mutations Made By|| |
Philip Ebert, Vanderbilt University
When maintained as a live colony, heterozygous x wildtype (or C57BL/6J) crosses may be used. Homozygotes are embryonic lethal.
When using the Mor2am1H mouse strain in a publication, please cite the originating article(s) and include JAX stock #006963 in your Materials and Methods section.