This line of mice provides a model for Persistant Hyperinsulinemic Hypoglycemia of Infancy, or PHHI-GK, a rare genetic disease of humans.  A gk^A456V mutation, originally identified in a human pedigree with PHHI-GK, was introduced into these mice by gene knock-in.  These mice may be useful for studies of sustained hypoglycemia. The mutation has been bred into a C57BL/6J strain thereby facilitating direct comparisons to both wild type C57BL/6J animals and to animals with a gk^K414E mutation.

A single base mutation was introduced into exon 10 via site specific mutagenesis to change amino acid 456 from alanine to valine. Genotype by DNA PCR using primers 5'-TGT CTC AAT TTG CTG TGT CCT CCA-3' and 5'-ATG TGT GAG TGT GCC AAT ATG AGT-3'. These primers will amplify a 636 bp fragment from the wild type allele and a 741 bp fragment from the mutant allele. Homozygous mutant mice, which have a phenotype of moderate hypoglycemia, are viable and breed well. Heterozygous animals are mildly hypoglycemic.