Phenotypes associated with this allele

• Allele Symbol: Galc^twi-5J
• Allele Name: twitcher 5 Jackson
• Allele ID: MGI:3800471
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Galc^twi-5J/Galc^twi-5J	BXD32/TyJ-Galc^twi-5J/J	MGI:3809885

Genotype
MGI:3809885

hm1

• Allelic Composition: Galc^twi-5J/Galc^twi-5J
• Genetic Background: BXD32/TyJ-Galc^twi-5J/J

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

mortality/aging

premature death ( J:199132 )

• median survival is 23.5 days

postnatal lethality, incomplete penetrance ( J:139715 )

• most homozygotes die by 21 days of age

nervous system

abnormal corpus callosum morphology ( J:199132 )

• with a small increase in unmyelinated medium-caliber axons and lipid inclusions

gliosis ( J:199132 )

• extensive in the forebrain and brainstem by 3 weeks

astrocytosis ( J:199132 )

• astrocytosis in the forebrain (with globoid cell accumulation) and spinal cord at P15

• reactive astrocytes within the pyramidal tracts, cuneate fasciculus and dorsal white matter of the spinal cord, especially prominent in the dorsal root entry and ventral root exit zones

abnormal axon morphology ( J:199132 )

• abnormal axons in the corpus callosum and spinal cord without evidence of demyelinating process in the central nervous system

• severe axonal loss in the peripheral nervous system

abnormal spinal cord morphology ( J:199132 )

• early signs of axonal loss, degenerating axons surrounded by compact myelin and lipid inclusions

demyelination ( J:139715 , J:199132 )

• deficiency of myelin is found as early as 3 weeks of age (J:139715)

• in the peripheral nervous system with macrophage accumulation (J:199132)

• however, myelination is normal in the central nervous system (J:199132)

growth/size/body

decreased body size ( J:139715 , J:199132 )

• evident by 14-16 days of age (J:139715)

• after 2 weeks of age (J:199132)

slow postnatal weight gain ( J:199132 )

• stunted growth

cachexia ( J:139715 )

• clinical weakness and wasting are found after the tremor presents

behavior/neurological

tremors ( J:139715 , J:199132 )

• moderate tremor can be discerned by 14 to 16 days of age (J:139715)

• generalized (J:199132)

weakness ( J:199132 )

vision/eye

vision/eye phenotype ( J:139715 )

N • ophthalmoscopic examination of two homozygotes at 25 days of age shows normal eyes

hematopoietic system

abnormal leukocyte morphology ( J:199132 )

• globoid cell accumulation in the forebrain at P15

immune system

abnormal leukocyte morphology ( J:199132 )

• globoid cell accumulation in the forebrain at P15