Phenotypes Associated with This Genotype

Genotype
MGI:6491890

• Allelic Composition: Coasy^tm1.1Vtr/Coasy^tm1.1Vtr; Tg(Syn1-cre)671Jxm/0
• Genetic Background: involves: 129 * C57BL/6N * CBA

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

behavior/neurological

impaired righting response ( J:299154 )

dystonia ( J:299154 )

• dystonia-like movements with flexing or prolonged stiff extension of the limbs and tail rigidity

abnormal tail movements ( J:299154 )

• tail rigidity

positive geotaxis ( J:299154 )

cellular

abnormal mitochondrial physiology ( J:299154 )

• impairment of pyruvate-dependent mitochondrial respiration in the brain

growth/size/body

decreased body weight ( J:299154 )

• starting at P8

postnatal growth retardation ( J:299154 )

• starting at P8

homeostasis/metabolism

abnormal calcium level ( J:299154 )

• increased in the brain

increased brain iron level ( J:299154 )

abnormal magnesium level ( J:299154 )

• increased in the brain

mortality/aging

premature death ( J:299154 )

• mice were euthanized around P13 for compassionate reasons

muscle

dystonia ( J:299154 )

• dystonia-like movements with flexing or prolonged stiff extension of the limbs and tail rigidity

nervous system

nervous system phenotype ( J:299154 )

N • forebrains exhibit normal troughs and no astrocytosis, neuroinflammation, neuronal loss or intracellular inclusion

increased brain iron level ( J:299154 )

decreased brain weight ( J:299154 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neurodegeneration with brain iron accumulation 6		DOID:0110740	OMIM:615643	J:299154