Phenotypes Associated with This Genotype

Genotype
MGI:6276669

• Allelic Composition: Tg(Mpz)88.2Mfel/0
• Genetic Background: FVB/N-Tg(Mpz)88.2Mfel

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

behavior/neurological

abnormal behavior ( J:77658 )

• mice exhibit self-mutilation, presumably from sensory symptoms

tremors ( J:77658 )

muscle

muscular atrophy ( J:77658 )

• muscular atrophy is evident, with mice showing atrophy in axial and hindlimb muscles at P160

• symptoms are most severe in this line

muscle weakness ( J:77658 )

• mice exhibit variable signs of muscle weakness such as clenching of the apws, dragging of hind limbs and floppy tail

nervous system

abnormal myelin sheath morphology ( J:77658 )

• sciatic nerves shows widening of myelin lamellae

• poorly compacted areas show absence of the intraperiod line and occasionally, the major dense line is uncompacted, indicating packing abnormalities

tomacula ( J:77658 )

• occasional sciatic nerve fibers show thick and redundant myelin, likely indicating myelin outfolding or tomacula

• more frequent tomacula are seen at P7

• tomacula appear to originate from the paranodal region and contain poorly compacted myelin

axon degeneration ( J:77658 )

• occasionally older mice show signs of axonal degeneration

demyelination ( J:77658 )

• occasionally older mice exhibit demyelinating figures and short internodes suggesting remyelination

• however, no onion bulbs are seen at any age

dysmyelination ( J:77658 )

• sciatic nerves at P28 show hypomyelination, with thin or absent myelin sheaths on many large caliber axons

• sciatic nerves at 7 months show more pronounced hypomyelination, with most large caliber axons showing very thin or absent myelin

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 1B		DOID:0110152	OMIM:118200	J:77658