Mouse Genome Informatics
hm
    Gamttm1Isb/Gamttm1Isb
involves: 129S1/Sv * 129X1/SvJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• fewer than expected homozygous mice are found after birth and those that died had no milk in their stomachs

adipose tissue
• total body fat is reduced to less than 30% of control littermates

behavior/neurological
• maximum grip force is decreased in homozygous males
• when lifted by the tail homozygous mice display reduced body tension

cellular
• ATP synthase activities are significantly higher in brains from homozygous mice

endocrine/exocrine glands
• the seminiferous tubules are highly unordered with large numbers of resorption holes, increased lumen size, and many multinucleated giant cells (J:90367)

growth/size/body
• total body fat is reduced to less than 30% of control littermates
• decreased body weight in homozygous mice is detectable during the first weeks of life and this difference compared to wild-type littermates increases over time
• this decrease in body weight is not the result of reduced food intake, altered cage activity or changes in secretion of leptin, adiponectin, or insulin
• water content normalized to total body weight is increased 20% compared to control littermates

homeostasis/metabolism
• creatine and creatinine concentrations are significantly reduced in serum, brain, muscle and urine samples
• guanidinoacetate, a metabolite used to generate creatine, concentrations are increased in serum, brain, and urine samples
• creatine and creatinine concentrations are significantly reduced in urine samples
• guanidinoacetate, a metabolite used to generate creatine, concentrations are increased in urine samples

renal/urinary system
• creatine and creatinine concentrations are significantly reduced in urine samples
• guanidinoacetate, a metabolite used to generate creatine, concentrations are increased in urine samples

reproductive system
• the seminiferous tubules are highly unordered with large numbers of resorption holes, increased lumen size, and many multinucleated giant cells (J:90367)
• mature spermatozoa are almost absent and elongated spermatid numbers are greatly reduced (J:90367)
• many matings of homozygous males produce no litters (J:90367)
• when males are fertile they tend to produce smaller litters (J:90367)

Mouse Models of Human Disease
OMIM IDRef(s)
Cerebral Creatine Deficiency Syndrome 2; CCDS2 612736 J:90367