Phenotypes Associated with This Genotype

Genotype
MGI:5476673

• Allelic Composition: Tg(Eno2-MFN2*R94Q)L87Ugfm/Tg(Eno2-MFN2*R94Q)L87Ugfm
• Genetic Background: involves: C57BL/6 * DBA/2

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

behavior/neurological

impaired coordination ( J:173431 )

• at 5 months with phenotypic variation

abnormal posture ( J:173431 )

• mice stand very low on their legs and tail dragging

tail dragging ( J:173431 )

abnormal gait ( J:173431 )

short stride length ( J:173431 )

• with everted paws

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 )

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