Phenotypes associated with this allele

• Allele Symbol: Hepacam^tm1.1Tjj
• Allele Name: targeted mutation 1.1, Thomas J Jentsch
• Allele ID: MGI:5618261
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hepacam^tm1.1Tjj/Hepacam^tm1.1Tjj	involves: C57BL/6NTac	MGI:5646503
ht2	Hepacam^tm1.1Tjj/Hepacam^+	involves: C57BL/6NTac	MGI:5646504

Genotype
MGI:5646503

hm1

• Allelic Composition: Hepacam^tm1.1Tjj/Hepacam^tm1.1Tjj
• Genetic Background: involves: C57BL/6NTac

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

nervous system

brain vacuoles ( J:210308 )

• myelin vacuolization that slowly progresses with age

abnormal myelin sheath morphology ( J:210308 )

• myelin vacuolization that slowly progresses with age

• most prominent in fibre tracts of the cerebellum

• vacuolization is largely restricted to the cerebellum even after 1 year of age

• leukodystrophy

abnormal glial cell physiology ( J:210308 )

• abnormal Cl- currents in Bergmann glia

• cell capacitance is increased in Bergmann glia

• current amplitudes normalized to cell capacitance are moderately smaller compared to controls in Bergmann glia

abnormal oligodendrocyte physiology ( J:210308 )

• membrane capacitance is increased

• currents in oligodendrocytes show less voltage dependent activation

Genotype
MGI:5646504

ht2

• Allelic Composition: Hepacam^tm1.1Tjj/Hepacam⁺
• Genetic Background: involves: C57BL/6NTac

nervous system

brain vacuoles ( J:210308 )

• discrete myelin vacuolization is seen at 1 year of age in the cerebellar fibre tracts

abnormal myelin sheath morphology ( J:210308 )