Phenotypes associated with this allele

• Allele Symbol: Tg(Eno2-MFN2*R94Q)L51Ugfm
• Allele Name: transgene insertion L51, University of Geneva Faculty of Medicine
• Allele ID: MGI:4440895
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
tg1	Tg(Eno2-MFN2*R94Q)L51Ugfm/0	involves: C57BL/6 * C57BL/6J * DBA/2	MGI:4440922
tg2	Tg(Eno2-MFN2*R94Q)L51Ugfm/0	involves: C57BL/6 * DBA/2	MGI:5476672

Genotype
MGI:4440922

tg1

• Allelic Composition: Tg(Eno2-MFN2*R94Q)L51Ugfm/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * DBA/2

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

behavior/neurological

abnormal locomotor behavior ( J:158936 )

• mice exhibit locomotor impairments compared with wild-type mice

nervous system

abnormal axon morphology ( J:158936 )

• mice exhibit a shift in the size of myelinated axons compared with wild-type mice

• axons contain more mitochondria than wild-type axons

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 2A2A		DOID:0110155	OMIM:609260	J:158936

Genotype
MGI:5476672

tg2

• Allelic Composition: Tg(Eno2-MFN2*R94Q)L51Ugfm/0
• Genetic Background: involves: C57BL/6 * DBA/2

nervous system

nervous system phenotype ( J:173431 )

N • mice exhibit normal cerebellum morphology

abnormal axon morphology ( J:173431 )

• at 12 months, the proportion of small and medium axons is increased while proportion of large axons is decreased compared to in control mice

axon degeneration ( J:173431 )

abnormal nervous system electrophysiology ( J:173431 )

• the component area to amplitude ratio generated by small-medium fibers Adelta is increased compared to in control nerves

behavior/neurological

impaired coordination ( J:173431 )

• at 5 months with homogenous phenotype

cellular

increased mitochondrial number ( J:173431 )

• in medium and small myelinated axons at 12 months

• however, large axons exhibit normal numbers of mitochondria

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 2A2A		DOID:0110155	OMIM:609260	J:173431