ENU-induced T to A transversion at base pair 44,537,364 (v38) on chromosome 12, or base pair 208,533 in the GenBank genomic region NC_000078 for the Nrcam gene. The mutation is located within the donor splice site of intron 5, eight nucleotides from the previous exon. The effect of the mutation at the cDNA and protein level of either transcript is unknown. One possibility, is that aberrant splicing would cause skipping of the 106 base pair exon 5 in variant 1 (out of 31 total exons (variant 1) or 28 total exons (variant 2); exon 5 encodes amino acids 34-71 in both variants) and a frame-shift that results in coding of 12 aberrant amino acids followed by a premature stop codon in exon 6. Alternatively, a cryptic site in intron 5 may be used, resulting in a 92 base pair insertion of intron 5. This insertion would result in a frame-shift and coding of one aberrant amino acid after amino acid 70, followed by a premature stop codon.

Homozygous: Mice exhibited abnormal gait.

Heterozygous: No abnormal phenotype detected.

Original mutant was a C57BL/6J G3 ENU-induced mutant; all subsequent crosses to maintain strain were on C57BL/6J background only.

Wild-type littermates or C57BL/6J mice

The MMRRC Centers have developed a genetic QC pipeline using MiniMUGA array genotyping to provide additional information on strain backgrounds for MMRRC congenic and inbred strains. For more information on when data may be available, or to request genotyping for a strain of interest, please contact . Older strains may not have this information.