Phenotypes Associated with This Genotype

Genotype
MGI:3032447

• Allelic Composition: Slc22a5^jvs/Slc22a5^jvs
• Genetic Background: C3.OH-H2^o2 Slc22a5^jvs

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:40286 )

• 70% die by 5 weeks of age, remainder grow normally to 3 months at least

cardiovascular system

cardiac hypertrophy ( J:13736 , J:40286 )

• 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/size/body

cardiac hypertrophy ( J:13736 , J:40286 )

• 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)

postnatal growth retardation ( J:40286 )

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

homeostasis/metabolism

decreased circulating carnitine level ( J:18523 )

• lower total serum carnitine levels while body levels as a whole were higher

aminoaciduria ( J:18523 )

• increased levels of carnitine in the urine

increased circulating ammonia level ( J:31000 )

• result of decreased activity of enzymes in the urea cycle

abnormal glucose homeostasis ( J:31000 )

hypoglycemia ( J:31000 )

liver/biliary system

abnormal hepatocyte morphology ( J:31026 )

• lipid containing microvesicles in hepatocytes

hepatic steatosis ( J:31000 )

pale liver ( J:14288 )

renal/urinary system

aminoaciduria ( J:18523 )

• increased levels of carnitine in the urine

abnormal renal reabsorption ( J:18523 )

• lower kidney resorption of carnitine

reproductive system

reproductive system phenotype ( J:14288 )

N • males that survive beyond 5 weeks of age are fertile although weak

abnormal male reproductive system morphology ( J:53598 )

♂

abnormal epididymis morphology ( J:53598 )

♂ • flexed between the caput and the corpus

abnormal corpus epididymis morphology ( J:53598 )

♂ • proximal corpus swollen due to accumulation of spermatozoa, low columnar and cuboid epithelial cells

♂ • in severe cases, the epithelium ruptures and spermatozoa are extravasated

♂ • distal corpus constricted with no spermatozoa and an accumulation of eosinophilic debris, columnar epithelium

increased epididymis weight ( J:53598 )

♂

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
systemic primary carnitine deficiency disease		DOID:14365	OMIM:212140	J:13736 , J:14288 , J:18523 , J:31000 , J:31026 , J:40286 , J:51313 , J:53598