Mouse Genome Informatics
C3.OH-H2o2 Slc22a5jvs
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
• 70% die by 5 weeks of age, remainder grow normally to 3 months at least

cardiovascular system
• heart weight/body weight ratio 2X normal (J:13736)
• increased cardiac cell volume (J:13736)
• increased numbers of mitochondria in cardiac cells (J:13736)
• increase in non-collagen protein in cardiac cells (J:13736)
• greater growth in heart weight than normal (J:40286)
• hypertrophy involves ventricles and not atria (J:40286)

• growth was normal through 18 days but retarded by day 28

• lower total serum carnitine levels while body levels as a whole were higher
• increased levels of carnitine in the urine
• result of decreased activity of enzymes in the urea cycle

liver/biliary system
• lipid containing microvesicles in hepatocytes

renal/urinary system
• increased levels of carnitine in the urine
• lower kidney resorption of carnitine

reproductive system
• males that survive beyond 5 weeks of age are fertile although weak (J:14288)
• flexed between the caput and the corpus (J:53598)
• proximal corpus swollen due to accumulation of spermatozoa, low columnar and cuboid epithelial cells (J:53598)
• in severe cases, the epithelium ruptures and spermatozoa are extravasated (J:53598)
• distal corpus constricted with no spermatozoa and an accumulation of eosinophilic debris, columnar epithelium (J:53598)

Mouse Models of Human Disease
Carnitine Deficiency, Systemic Primary; CDSP 212140 J:13736 , J:14288 , J:18523 , J:31000 , J:31026 , J:40286 , J:51313 , J:53598