Phenotypes Associated with This Genotype

Genotype
MGI:8286421

• Allelic Composition: Tg(ATP6*)#aJguy
• Genetic Background: B6;D2-Tg(ATP6*)#aJguy/Jguy

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

behavior/neurological

impaired coordination ( J:378510 )

hunched posture ( J:378510 )

• earliest observation 10 weeks of age

paralysis ( J:378510 )

• earliest observation 14 weeks of age

seizures ( J:378510 )

mortality/aging

premature death ( J:378510 )

• 20% of the expressing population died before 6 months of age

growth/size/body

weight loss ( J:378510 )

neoplasm

increased tumor incidence ( J:378510 )

nervous system

seizures ( J:378510 )

retina photoreceptor degeneration ( J:378510 )

spongiform encephalopathy ( J:378510 )

vision/eye

retina photoreceptor degeneration ( J:378510 )

thin retina inner nuclear layer ( J:378510 )

retina outer nuclear layer degeneration ( J:378510 )

abnormal electroretinogram waveform feature ( J:378510 )

• declines in flash electroretinogram and pattern electroretinogram

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leigh disease		DOID:3652	OMIM:256000	J:378510