Phenotypes associated with this allele

• Allele Symbol: Epb41l3^tm1Bhat
• Allele Name: targeted mutation 1, Manzoor A Bhat
• Allele ID: MGI:5140703
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Epb41l3^tm1Bhat/Epb41l3^tm1Bhat	Not Specified	MGI:5140709
cn2	Epb41l3^tm1Bhat/Epb41l3^tm1.1Bhat Tmem163^Tg(ACTB-cre)2Mrt/0	involves: FVB/N	MGI:5140710

Genotype
MGI:5140709

hm1

• Allelic Composition: Epb41l3^tm1Bhat/Epb41l3^tm1Bhat
• Genetic Background: Not Specified

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

normal phenotype

no abnormal phenotype detected ( J:173383 )

• homozygotes born in expected numbers and ratios

• no obvious behavioral or developmental defects

Genotype
MGI:5140710

cn2

• Allelic Composition: Epb41l3^tm1Bhat/Epb41l3^tm1.1Bhat; Tmem163^{Tg(ACTB-cre)2Mrt}/0
• Genetic Background: involves: FVB/N

nervous system

abnormal paranode morphology ( J:173383 )

• accumulation of smooth endoplasmic reticulum in nodal-paranodal regions

abnormal paranodal axoglial junction morphology ( J:173383 )

• septate junction septa in sciatic nerves become more diffuse, most lacking electron dense granules at 1 month of age

• septa in sciatic nerves are diffuse and fuzzy at 3 months

• axolemma becomes detached from the myelin loops where septa are missing in the spinal cord