Phenotypes Associated with This Genotype

Genotype
MGI:2659147

• Allelic Composition: Mocs1^tm1Jre/Mocs1^tm1Jre
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

mortality/aging

postnatal lethality, complete penetrance ( J:80807 )

• normal appearance at birth but die between 1 and 11 days of age (ave 7.5)

homeostasis/metabolism

abnormal urine homeostasis ( J:80807 )

• elevated sulfite levels in urine

aminoaciduria ( J:80807 )

taurinuria ( J:80807 )

• elevated urine taurine levels

cystinuria ( J:80807 )

• elevated urine cystin levels

• possibly elevated urine sulfocystein levels

decreased urine uric acid level ( J:80807 )

• undetectable uric acid levels in the urine

increased urine xanthine level ( J:80807 )

• elevated xanthine level in the urine

abnormal enzyme/coenzyme activity ( J:80807 )

• all molybdenum-dependent enzymes are inactive

growth/size/body

decreased body size ( J:80807 )

renal/urinary system

abnormal urine homeostasis ( J:80807 )

• elevated sulfite levels in urine

aminoaciduria ( J:80807 )

taurinuria ( J:80807 )

• elevated urine taurine levels

cystinuria ( J:80807 )

• elevated urine cystin levels

• possibly elevated urine sulfocystein levels

decreased urine uric acid level ( J:80807 )

• undetectable uric acid levels in the urine

increased urine xanthine level ( J:80807 )

• elevated xanthine level in the urine

integument

curly vibrissae ( J:80807 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
molybdenum cofactor deficiency type A		DOID:0111164	OMIM:252150	J:80807