Mouse Genome Informatics
hm
    Hnf1atm1.1Ylee/Hnf1atm1.1Ylee
involves: 129X1/SvJ * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• homozygous mice are born at less than half the expected frequency

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

homeostasis/metabolism
• 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

behavior/neurological
• null males show no mating behavior when paired with wild-type or null females (J:47008)

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 (J:47008)
• 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

Mouse Models of Human Disease
OMIM IDRef(s)
Diabetes Mellitus, Noninsulin-Dependent; NIDDM 125853 J:47008
Growth Hormone Insensitivity with Immunodeficiency 245590 J:47008
Maturity-Onset Diabetes of the Young, Type 3; MODY3 600496 J:47008