Phenotypes Associated with This Genotype

Genotype
MGI:5804652

• Allelic Composition: Camkmt^tm1Rpav/Camkmt^tm1Rpav
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

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

muscle

increased variability of skeletal muscle fiber size ( J:228818 )

myopathy ( J:228818 )

cellular

abnormal mitochondrial ATP synthesis coupled electron transport ( J:228818 )

• reduced complex I and IV activity in the brain

• reduced complex I, but not IV, in muscle

renal/urinary system

renal/urinary system phenotype ( J:228818 )

N • mice exhibit no cysteine in the urine

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypotonia-cystinuria syndrome		DOID:0060858	OMIM:606407	J:218818