All Phenotypes Mfn2<tm1.1Arte> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Mfn2^tm1.1Arte/Mfn2^tm1.1Arte Slc6a3^tm1(cre)Lrsn/Slc6a3⁺	involves: 129S1/Sv * 129X1/SvJ	MGI:5440841
cn2	Gt(ROSA)26Sor^tm1Lrsn/Gt(ROSA)26Sor⁺ Mfn2^tm1.1Arte/Mfn2^tm1.1Arte Slc6a3^tm1(cre)Lrsn/Slc6a3⁺	involves: 129S1/Sv * 129X1/SvJ	MGI:5440842

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

mortality/aging

premature death ( J:188337 )

• die before 7 weeks of age with a median survival of 5.8 weeks

• life span can be increased to 11-12 weeks of age when provided with moist food on the cage floor

nervous system

abnormal substantia nigra pars compacta morphology ( J:188337 )

• pathological alterations (irregular margins and elongated nuclei) of the somata of the substantia nigra pars compacta are seen at 5 weeks of age

abnormal innervation ( J:188337 )

• profound lack of dopaminergic neuron innervation in the striatum

abnormal neuron physiology ( J:188337 )

• severe respiratory chain deficiency in mitochondria in dopaminergic neurons

growth/size/body

decreased body weight ( J:188337 )

• at 5 weeks of age

weight loss ( J:188337 )

• continue to lose weight even when provided with moist food on the cage floor

behavior/neurological

abnormal locomotor activation ( J:188337 )

• total distance traveled is significantly increased in an open field test

• however, locomotion as assessed by horizontal beam breaks is similar to controls

decreased vertical activity ( J:188337 )

• decreased rearing activity in an open field test

decreased locomotor activity ( J:188337 )

• become severely hypokinetic with age

cellular

abnormal respiratory electron transport chain ( J:188337 )

• severe respiratory chain deficiency in mitochondria in dopaminergic neurons

homeostasis/metabolism

decreased dopamine level ( J:188337 )

• severe reduction in the striatum at 5 weeks of age

• also reduced in the substantia nigra pars compacta

increased serotonin level ( J:188337 )

• in the striatum

Allelic Composition	Gt(ROSA)26Sor^tm1Lrsn/Gt(ROSA)26Sor⁺ Mfn2^tm1.1Arte/Mfn2^tm1.1Arte Slc6a3^tm1(cre)Lrsn/Slc6a3⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^tm1Lrsn mutation (1 available); any Gt(ROSA)26Sor mutation (1046 available)
Mfn2^tm1.1Arte mutation (0 available); any Mfn2 mutation (27 available)
Slc6a3^tm1(cre)Lrsn mutation (1 available); any Slc6a3 mutation (70 available)

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

nervous system

abnormal dorsal striatum morphology ( J:188337 )

• profound reduction in the number of labeled mitochondria in the dorsal striatum

abnormal dopaminergic neuron morphology ( J:188337 )

• mitochondria are spherical and enlarged with disorganized cristae

cellular

abnormal mitochondrial shape ( J:188337 )

• mitochondria in dopaminergic neurons are spherical and enlarged with disorganized cristae

decreased mitochondrial number ( J:188337 )

• profound reduction in the number of labeled mitochondria in the dorsal striatum

increased mitochondrial size ( J:188337 )

• mitochondria in dopaminergic neurons are spherical and enlarged with disorganized cristae

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