All Phenotypes Parl<tm1.1Bdes> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Parl^tm1.1Bdes/Parl^tm1.1Bdes	involves: 129P2/OlaHsd	MGI:6280686
hm2	Parl^tm1.1Bdes/Parl^tm1.1Bdes	involves: 129P2/OlaHsd * C57BL/6J	MGI:3695279
cx3	Parl^tm1.1Bdes/Parl^tm1.1Bdes Pink1^tm1.1Wrst/Pink1^tm1.1Wrst	involves: 129P2/OlaHsd * 129S2/SvPas	MGI:6280687
cx4	Parl^tm1.1Bdes/Parl^tm1.1Bdes Pgam5^{tm1d(EUCOMM)Wtsi}/Pgam5^{tm1d(EUCOMM)Wtsi} Pink1^tm1.1Wrst/Pink1^tm1.1Wrst	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6N	MGI:6280690
cx5	Parl^tm1.1Bdes/Parl^tm1.1Bdes Pgam5^{tm1d(EUCOMM)Wtsi}/Pgam5^{tm1d(EUCOMM)Wtsi}	involves: 129P2/OlaHsd * C57BL/6N	MGI:6280688

Allelic Composition	Parl^tm1.1Bdes/Parl^tm1.1Bdes
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Parl^tm1.1Bdes mutation (1 available); any Parl mutation (28 available)

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

mortality/aging

premature death ( J:269785 )

• even when bred in specific pathogen-free conditions, mice die before 8 weeks with atrophic muscles, thymus and spleen

nervous system

brainstem hemorrhage ( J:269785 )

• at 7 weeks

spinal hemorrhage ( J:269785 )

• at 7 weeks

microgliosis ( J:269785 )

• extensive

astrocytosis ( J:269785 )

• extensive

neuron degeneration ( J:269785 )

• of Rbfox3+ cells due to necrosis

• however, no overt increase in apoptosis is observed in the brain

encephalopathy ( J:269785 )

• subcortical vacuolar encephalomyelopathy; initially detected at 5 weeks of age in the brainstem that progresses anteriorly to hypothalamus, thalamus, deep cerebellar nuclei, and the cingulate cortex

• however, no neuronal loss is observed in the cortex, hippocampus, and substantia nigra

immune system

abnormal thymus apoptosis ( J:269785 )

thymus atrophy ( J:269785 )

• a few days before death

microgliosis ( J:269785 )

• extensive

spleen atrophy ( J:269785 )

• a few days before death

behavior/neurological

hunched posture ( J:269785 )

• rapidly progressive from the age of 6 weeks

abnormal voluntary movement ( J:269785 )

• rapidly progressive from the age of 6 weeks with lower limb paresis, hunched back and dyspnea

paresis ( J:269785 )

• rapidly progressive from the age of 6 weeks

cellular

abnormal mitochondrial morphology ( J:269785 )

• progressively more severe swollen and abnormal mitochondria in medulla oblongata neurons beginning at 3 weeks of age and corresponding to neuronal loss indicative of necrosis

abnormal mitochondrial crista morphology ( J:269785 )

• in medulla oblongata neurons at 3 weeks of age

abnormal thymus apoptosis ( J:269785 )

abnormal mitochondrial physiology ( J:269785 )

• severely reduced calcium capacity upon progressive loading of mitochondrial purified from the brain without an alteration in mitochondrial depolarization

abnormal respiratory electron transport chain ( J:269785 )

• severe involving CIII and CoQ beginning as early as 3 weeks of age

• however, no increase in reactive oxygen species is detected in the brain

cardiovascular system

abnormal vasculogenesis ( J:269785 )

• vascular proliferation in the brain at advanced stages

internal hemorrhage ( J:269785 )

• at 7 weeks mostly affecting the brainstem and spinal cord

brainstem hemorrhage ( J:269785 )

• at 7 weeks

spinal hemorrhage ( J:269785 )

• at 7 weeks

endocrine/exocrine glands

abnormal thymus apoptosis ( J:269785 )

thymus atrophy ( J:269785 )

• a few days before death

respiratory system

respiratory distress ( J:269785 )

• rapidly progressive from the age of 6 weeks

muscle

muscular atrophy ( J:269785 )

hematopoietic system

abnormal thymus apoptosis ( J:269785 )

thymus atrophy ( J:269785 )

• a few days before death

microgliosis ( J:269785 )

• extensive

spleen atrophy ( J:269785 )

• a few days before death

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

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

mortality/aging

premature death ( J:116017 )

• all mice die between 8 and 12 weeks of age, from cachexia and breathing difficulties

growth/size/body

cachexia ( J:116017 )

• beginning at 4 weeks, mutants show a general progressive cachexia

postnatal growth retardation ( J:116017 )

• from 4 weeks of age onward, mutants exhibit severe growth retardation

cellular

abnormal cell physiology ( J:116017 )

• cultured embryonic fibroblasts (MEFs) from null mice release cytochrome C more rapidly than wild-type cells after treatment with hydrogen peroxide

increased T cell apoptosis ( J:116017 )

• B and T cell numbers are massively decreased by apoptotic cell death

increased neuron apoptosis ( J:116017 )

• levels of apoptotic cell death are elevated in thalamus and striatum

abnormal mitochondrial physiology ( J:116017 )

• mitochondrial dysfunction upon cytochrome C release occurs more rapidly in mutant MEFs than wild-type

• mitochondria in mutant cells display faster cristae remodeling and cytochrome C mobilization upon treatment with cBID

immune system

increased T cell apoptosis ( J:116017 )

• B and T cell numbers are massively decreased by apoptotic cell death

thymus atrophy ( J:116017 )

• at 8 weeks, thymus is massively atrophic weighing ~10% or less compared to controls

decreased lymphocyte cell number ( J:116017 )

• lymphocyte numbers are severely decreased, accompanying lymphoid organ atrophy

decreased double-positive T cell number ( J:116017 )

• DP T cell number is reduced 100-fold in thymus due to apoptosis, compared with wild-type

decreased B cell number ( J:116017 )

• B220+ B cells are depleted in spleen at 7 weeks by apoptosis

abnormal B cell morphology ( J:116017 )

• B and T cell numbers are massively decreased by apoptotic cell death

spleen atrophy ( J:116017 )

• at 8 weeks, spleen is massively atrophic weighing ~10% or less compared to controls

hematopoietic system

increased T cell apoptosis ( J:116017 )

• B and T cell numbers are massively decreased by apoptotic cell death

thymus atrophy ( J:116017 )

• at 8 weeks, thymus is massively atrophic weighing ~10% or less compared to controls

decreased lymphocyte cell number ( J:116017 )

• lymphocyte numbers are severely decreased, accompanying lymphoid organ atrophy

decreased double-positive T cell number ( J:116017 )

• DP T cell number is reduced 100-fold in thymus due to apoptosis, compared with wild-type

decreased B cell number ( J:116017 )

• B220+ B cells are depleted in spleen at 7 weeks by apoptosis

abnormal B cell morphology ( J:116017 )

• B and T cell numbers are massively decreased by apoptotic cell death

spleen atrophy ( J:116017 )

• at 8 weeks, spleen is massively atrophic weighing ~10% or less compared to controls

muscle

decreased skeletal muscle fiber diameter ( J:116017 )

• diameter of individual muscle fibers is reduced at 8 weeks

decreased skeletal muscle mass ( J:116017 )

• mice lose muscle mass in the erector spinae and abdominal muscles (and diaphragm), beginning at 4 weeks of age, resulting in postural deformity

muscular atrophy ( J:116017 )

nervous system

neurodegeneration ( J:116017 )

• degenerative changes in the thalamus and striatum are observed

abnormal nervous system physiology ( J:116017 )

• striatal dysfunction

increased neuron apoptosis ( J:116017 )

• levels of apoptotic cell death are elevated in thalamus and striatum

abnormal nerve conduction ( J:116017 )

reproductive system

abnormal male reproductive system morphology ( J:116017 )

• size of accessory glands is reduced

small testis ( J:116017 )

cryptorchism ( J:116017 )

small epididymis ( J:116017 )

• reduced size

abnormal uterine environment ( J:116017 )

• uteri of mice remain prepuberal

respiratory system

respiratory distress ( J:116017 )

• between 8 and 12 weeks, mice have difficulty breathing, likely due to loss of muscle mass

skeleton

kyphosis ( J:116017 )

• mice display severe kyphosis by 8 weeks

endocrine/exocrine glands

thymus atrophy ( J:116017 )

• at 8 weeks, thymus is massively atrophic weighing ~10% or less compared to controls

small testis ( J:116017 )

cryptorchism ( J:116017 )

Allelic Composition	Parl^tm1.1Bdes/Parl^tm1.1Bdes Pink1^tm1.1Wrst/Pink1^tm1.1Wrst
Genetic Background	involves: 129P2/OlaHsd * 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Parl^tm1.1Bdes mutation (1 available); any Parl mutation (28 available)
Pink1^tm1.1Wrst mutation (0 available); any Pink1 mutation (43 available)

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

mortality/aging

premature death ( J:269785 )

nervous system

neuron degeneration ( J:269785 )

Allelic Composition	Parl^tm1.1Bdes/Parl^tm1.1Bdes Pgam5^{tm1d(EUCOMM)Wtsi}/Pgam5^{tm1d(EUCOMM)Wtsi} Pink1^tm1.1Wrst/Pink1^tm1.1Wrst
Genetic Background	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Parl^tm1.1Bdes mutation (1 available); any Parl mutation (28 available)
Pgam5^{tm1d(EUCOMM)Wtsi} mutation (0 available); any Pgam5 mutation (26 available)
Pink1^tm1.1Wrst mutation (0 available); any Pink1 mutation (43 available)

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

mortality/aging

premature death ( J:269785 )

nervous system

neuron degeneration ( J:269785 )

Allelic Composition	Parl^tm1.1Bdes/Parl^tm1.1Bdes Pgam5^{tm1d(EUCOMM)Wtsi}/Pgam5^{tm1d(EUCOMM)Wtsi}
Genetic Background	involves: 129P2/OlaHsd * C57BL/6N

Find Mice

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

mortality/aging

premature death ( J:269785 )

nervous system

neuron degeneration ( J:269785 )

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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