ENU-induced T to C transition at base pair 3,388,646 on chromosome 15, corresponding to base pair 194,707 in the GenBank genomic region NC_000081 for the Ghr gene. The mutation is located in the donor splice site of intron 3, two nucleotides from the previous exon in the NM_010284, NM_001048178, and NM_001286370 transcripts; the NM_010284 transcript contains 11 total exons, the NM_001048178 and NM_001286370 transcripts contain 9 total exons. The effect of the mutation at the cDNA and protein level is unknown. One possibility is that aberrant splicing may result in the skipping of the 66 base pair exon 3 and splicing from exon 2 to exon 4. The aberrant splicing would lead to an in-frame deletion of 22 amino acids and coding of one aberrant amino acid (Ser46Gly).

Homozygous: Mice exhibited decreased body weights and were visibly smaller in size compared to the wild-type controls.

Heterozygous: Mice exhibited reduced body weights compared to the wild-type controls, but not as extreme as homozygous gnome mice.

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.