Phenotypes associated with this allele

• Allele Symbol: Ugt8a^tm1Wst
• Allele Name: targeted mutation 1, Wilhelm Stoffel
• Allele ID: MGI:2384084
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ugt8a^tm1Wst/Ugt8a^tm1Wst	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:2450143

Genotype
MGI:2450143

hm1

• Allelic Composition: Ugt8a^tm1Wst/Ugt8a^tm1Wst
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

Ugt8a^tm1Wst/Ugt8a^tm1Wst with wild type littermate

mortality/aging

premature death ( J:36558 )

• most mice died at the end of the myelination period (25-30 d of age)

behavior/neurological

tremors ( J:36558 )

• observed after 10-12 days of age

abnormal gait ( J:36558 )

decreased locomotor activity ( J:36558 )

• decreased activity

forelimb paralysis ( J:36558 )

• onset by 21 days of age

hindlimb paralysis ( J:36558 )

• onset by 21 days of age

growth/size/body

postnatal growth retardation ( J:36558 )

homeostasis/metabolism

abnormal lipid level ( J:36558 )

• absence of galactocerebroside and sulfatide

nervous system

demyelination ( J:36558 , J:48209 )

• affecting some axons of the optic nerve, but remaining myelin has normal ultrastructural morphology (J:36558)

• affecting some axons of the spinal cord; reduced thickness of observed myelin and redundant myelination leading to vacuolation; abnormal termination of the lateral loops at the paranodal junctions between axons and glial cells (J:48209)

abnormal nerve conduction ( J:36558 )

• conductance velocity decreased to levels equivalent to those found in unmyelinated axons