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Phenotypes Associated with This Genotype
Genotype
MGI:3044676
Allelic
Composition
Gamttm1Isb/Gamttm1Isb
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gamttm1Isb mutation (0 available); any Gamt mutation (4 available)
phenotype observed in females
phenotype observed in males
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
• mature spermatozoa are almost absent and elongated spermatid numbers are greatly reduced
• 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

growth/size/body
• water content normalized to total body weight is increased 20% compared to 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

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

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


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
11/29/2016
MGI 6.06
The Jackson Laboratory