Phenotypes associated with this allele

• Allele Symbol: Nfasc^tm1Bhat
• Allele Name: targeted mutation 1, Manzoor A Bhat
• Allele ID: MGI:3836177
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Nfasc^tm1Bhat/Nfasc^tm1Bhat Cnp^tm1(cre)Kan/?	involves: 129S1/Sv * 129X1/SvJ	MGI:3836428
cn2	Nfasc^tm1Bhat/Nfasc^tm1Bhat Tg(Plp1-cre/ERT)3Pop/?	involves: C57BL/6 * DBA/2	MGI:3836432
cn3	Nfasc^tm1Bhat/Nfasc^tm1Bhat Tg(Mpz-cre)26Mes/?	involves: FVB/N	MGI:3836431

Genotype
MGI:3836428

cn1

• Allelic Composition: Nfasc^tm1Bhat/Nfasc^tm1Bhat; Cnp^tm1(cre)Kan/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

postnatal lethality, complete penetrance ( J:145846 )

• all homozygotes die before day 16 or 17

growth/size/body

weight loss ( J:145846 )

• progressive weight loss from 8 days of age onward

postnatal growth retardation ( J:145846 )

• size is normal until about 8 days of age

• noticeably smaller in stature by 12 days of age

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:145846 )

• progressive development of neurological disorders by 12 days of age

abnormal motor coordination/balance ( J:145846 )

impaired balance ( J:145846 )

• cannot maintain their balance on a stationary beam at 16 days of age

impaired coordination ( J:145846 )

• severe motor coordination defects at 16 days of age

abnormal limb posture ( J:145846 )

• day 16 mice hold their legs to the side and away from the body

decreased locomotor activity ( J:145846 )

• hypomobility at 16 days of age

• nearly immobile in open field tests

nervous system

abnormal axon morphology ( J:145846 )

• potassium channels become mislocated to the paranodal region adjacent to the normally distributed sodium channels

• abnormal association of paranodal loops with axons in the white matter of the spinal cord

• axonal accumulation of mitochondria and smooth endoplasmic reticulum

abnormal Purkinje cell axon morphology ( J:145846 )

• axonal swelling

• axonal degeneration

decreased nerve conduction velocity ( J:145846 )

• conduction velocity of tibial/plantar nerves is reduced about 50%

Genotype
MGI:3836432

cn2

• Allelic Composition: Nfasc^tm1Bhat/Nfasc^tm1Bhat; Tg(Plp1-cre/ERT)3Pop/?
• Genetic Background: involves: C57BL/6 * DBA/2

nervous system

abnormal axon morphology ( J:145846 )

• after 20 days of tamoxifen treatment

• septal morphology of axons becomes progressively disorganized

• axolemma becomes detached from myelin loops

decreased nerve conduction velocity ( J:145846 )

• moderate reduction of tibial/plantar conduction velocity in mice injected at days 23-33 with tamoxifen measured around 86 days of age

Genotype
MGI:3836431

cn3

• Allelic Composition: Nfasc^tm1Bhat/Nfasc^tm1Bhat; Tg(Mpz-cre)26Mes/?
• Genetic Background: involves: FVB/N

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:145846 )

• abnormal neurological defects do not appear until 90 days of age

nervous system

decreased nerve conduction velocity ( J:145846 )

• conduction velocity of tibial/plantar nerves is reduced about 50%