Phenotypes Associated with This Genotype

Genotype
MGI:5904770

• Allelic Composition: Mocs2^{tm1(KOMP)Vlcg}/Mocs2^{tm1(KOMP)Vlcg}
• Genetic Background: involves: C57BL/6NTac
• Cell Lines: 14669A-G7

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

mortality/aging

postnatal lethality, complete penetrance ( J:242197 )

• mean life span of homozygotes is 4.7 days; most of them die either at P1 or between P5 and P10

• all homozygotes die within 11 days of birth

growth/size/body

decreased body size ( J:242197 )

• at P7, homozygous pups appear much smaller than wild-type or heterozygous littermates

postnatal growth retardation ( J:242197 )

• mice show failure to thrive

slow postnatal weight gain ( J:242197 )

• although normal at birth, mice gain weight at a significantly slower rate than wild-type and heterozygous littermates

behavior/neurological

weakness ( J:242197 )

• at P7, mice are generally in a weaker state of health than wild-type or heterozygous littermates

integument

abnormal hair growth ( J:242197 )

• at P7, mice exhibit a defect in overall hair growth

abnormal vibrissa morphology ( J:242197 )

• at P7, whiskers appear curly and flopped

curly vibrissae ( J:242197 )

flaky skin ( J:242197 )

wrinkled skin ( J:242197 )

homeostasis/metabolism

cystinuria ( J:242197 )

• significantly increased concentrations of S-sulfocysteine in urine samples

• however, no accumulation of toxic S-sulfocysteine is found in any of the tissues extracted at P6

abnormal blood homeostasis ( J:242197 )

• significantly increased concentrations of S-sulfocysteine in serum

• however, hypoxanthine and xanthine are not significantly elevated in serum

increased circulating creatinine level ( J:242197 )

• increased creatinine concentration in serum at P6, suggesting impaired kidney function

decreased blood uric acid level ( J:242197 )

• non-detectable levels of uric acid in the serum at P6

increased urine hypoxanthine level ( J:242197 )

• significantly elevated concentrations of hypoxanthine in urine samples collected at P6

increased urine protein level ( J:242197 )

• elevated levels of proteins in the urine

hemoglobinuria ( J:242197 )

• extremely high concentrations of hemoglobin and/or damaged erythrocytes (hemoglobinuria) in the urine

decreased urine uric acid level ( J:242197 )

• non-detectable levels of uric acid in the urine at P6

increased urine xanthine level ( J:242197 )

• at P6, urine xanthine concentrations are ~200-fold higher than those in healthy littermates

erythrocyturia ( J:242197 )

• extremely elevated levels of erythrocytes in the urine

abnormal enzyme/coenzyme activity ( J:242197 )

• all molybdenum-dependent enzymes are inactive, as exemplified by xanthine oxidoreductase and sulfite oxidase

renal/urinary system

cystinuria ( J:242197 )

• significantly increased concentrations of S-sulfocysteine in urine samples

• however, no accumulation of toxic S-sulfocysteine is found in any of the tissues extracted at P6

increased urine hypoxanthine level ( J:242197 )

• significantly elevated concentrations of hypoxanthine in urine samples collected at P6

increased urine protein level ( J:242197 )

• elevated levels of proteins in the urine

hemoglobinuria ( J:242197 )

• extremely high concentrations of hemoglobin and/or damaged erythrocytes (hemoglobinuria) in the urine

decreased urine uric acid level ( J:242197 )

• non-detectable levels of uric acid in the urine at P6

increased urine xanthine level ( J:242197 )

• at P6, urine xanthine concentrations are ~200-fold higher than those in healthy littermates

erythrocyturia ( J:242197 )

• extremely elevated levels of erythrocytes in the urine

abnormal kidney collecting duct morphology ( J:242197 )

• presence of insoluble crystals in the renal collecting duct system at P6

abnormal kidney pelvis morphology ( J:242197 )

• presence of insoluble crystals in the renal pelvis at P6

nephrolithiasis ( J:242197 )

• increased levels of xanthine result in kidney stone formation

cystolithiasis ( J:242197 )

• mice accumulate yellow xanthine deposits in the bladder, leading to urinary tract obstruction

• presence of insoluble crystals in the bladder at P6

urinary bladder obstruction ( J:242197 )

kidney failure ( J:242197 )

ischuria ( J:242197 )

• all mice exhibit urinary retention shortly before death

nervous system

increased neuron apoptosis ( J:242197 )

• increased concentrations of toxic sulfite trigger significant neuronal apoptosis in the hippocampus, cortex and brainstem

• however, no encephalopathy is observed

muscle

muscle weakness ( J:242197 )

• obvious muscle weakness at P7

cellular

increased neuron apoptosis ( J:242197 )

• increased concentrations of toxic sulfite trigger significant neuronal apoptosis in the hippocampus, cortex and brainstem

• however, no encephalopathy is observed

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
molybdenum cofactor deficiency type B		DOID:0111163	OMIM:252160	J:242197