Phenotypes Associated with This Genotype

Genotype
MGI:6280694

• Allelic Composition: Parl^tm1Bdes/Parl^tm1Bdes; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

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

mortality/aging

premature death ( J:269785 )

• similar to in knock-out mice with a 4 week delay

reproductive system

reproductive system phenotype ( J:269785 )

N • mice exhibit normal testis unlike in Parl^tm1.1Bdes homozygotes

nervous system

neurodegeneration ( J:269785 )

• Leigh-like neuropathy as in knock-out mice

• however, apoptosis rates are normal

immune system

abnormal thymus apoptosis ( J:269785 )

• increased

thymus atrophy ( J:269785 )

• in preterminal mice

spleen atrophy ( J:269785 )

• in preterminal mice

cellular

abnormal mitochondrial morphology ( J:269785 )

• as the neurons of Parl^tm1.1Bdes homozygotes

abnormal thymus apoptosis ( J:269785 )

• increased

liver/biliary system

liver degeneration ( J:269785 )

endocrine/exocrine glands

abnormal thymus apoptosis ( J:269785 )

• increased

thymus atrophy ( J:269785 )

• in preterminal mice

hematopoietic system

abnormal thymus apoptosis ( J:269785 )

• increased

thymus atrophy ( J:269785 )

• in preterminal mice

spleen atrophy ( J:269785 )

• in preterminal mice

muscle

muscular atrophy ( J:269785 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leigh disease		DOID:3652	OMIM:256000	J:269785