B6(101)-Mdh1^am1H/LvtJ

Stock number: 006963
Product name: Mor2^am1H
Research areas: Metabolism Research, Neurobiology Research

Description

These mice carry an ENU induced mutation that causes altered brain/body development and lethality in late homozygous embryos.

Detailed description

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.

Development

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

Symbol: Mdh1^am1H
Name: mutant 1 Harwell
MGI accession ID: MGI:1933639
Generation method: Chemically induced (ENU)
Attributes: Hypomorph
Marker symbol: Mdh1
Marker name: malate dehydrogenase 1, NAD (soluble)
Chromosome: 11
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.