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Phenotypes Associated with This Genotype
involves: 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hnf1atm1.1Ylee mutation (1 available); any Hnf1a mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• homozygous mice are born at less than half the expected frequency

• homozygotes are slightly smaller than wild-type or heterozygous littermates

• 2 weeks after birth nulls develop hyperglycemia; null mice develop diabetes by 2 weeks of age
• at 5 and 12 weeks, the circulating insulin levels in null mice are 60% of levels in heterozygotes
• levels of insulin-like growth factor I in the blood of null mice are only 20-30% that of control mice
• at 5 weeks of age, GH levels in null mice are 100 times and 45 times higher than those in control female and male mice
• 6 week old null mice have urine glucose levels 330x higher than heterozygotes
• cholesterol levels are higher in nulls than in heterozygotes

• null males show no mating behavior when paired with wild-type or null females

endocrine/exocrine glands
• the amount of insulin peptide and insulin-secreting cells in null mice are severely reduced
• the insulin-secreting cells in null mice are severely reduced

reproductive system
• reproductive organs in both sexes are underdeveloped in null animals
• null males have significantly reduced spermatogenesis
• null mice of both sexes are infertile

renal/urinary system
• 6 week old null mice have urine glucose levels 330x higher than heterozygotes
• null mice urinate more frequently than normal mice and diuresis is twice the control level

liver/biliary system
• hepatocytes from null mice are highly vacuolated and seemed to have an abnormal accumulation of complex carbohydrates
• livers of 5 week old null mice are 50% larger than that of normal littermates; nulls develop central lobular hyperplasia, with degeneration of individual hepatocytes obvious at 12 weeks

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.12
The Jackson Laboratory