Phenotypes associated with this allele

• Allele Symbol: Ugt8a^tm1Pop
• Allele Name: targeted mutation 1, Brian Popko
• Allele ID: MGI:2183312
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ugt8a^tm1Pop/Ugt8a^tm1Pop	involves: 129P2/OlaHsd	MGI:4818645
hm2	Ugt8a^tm1Pop/Ugt8a^tm1Pop	involves: 129P2/OlaHsd * C57BL/6	MGI:2450119
ht3	Ugt8a^tm1Pop/Ugt8a^+	involves: 129P2/OlaHsd * C57BL/6	MGI:2450120
cx4	Aspa^nur7/Aspa^nur7 Ugt8a^tm1Pop/Ugt8a^+	involves: 129P2/OlaHsd * C57BL/6J	MGI:3826778

Genotype
MGI:4818645

hm1

• Allelic Composition: Ugt8a^tm1Pop/Ugt8a^tm1Pop
• Genetic Background: involves: 129P2/OlaHsd

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

nervous system

abnormal Purkinje cell morphology ( J:107653 )

• loss of axoglial junctions

• paranodal transverse septa are absent

• disorganized and misoriented microtubules

abnormal Purkinje cell axon morphology ( J:107653 )

• large numbers of axonal swellings on Purkinje cells

• accumulation of mitochondria in axonal swellings

Genotype
MGI:2450119

hm2

• Allelic Composition: Ugt8a^tm1Pop/Ugt8a^tm1Pop
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

mortality/aging

premature death ( J:77226 )

• some mice died between 18-30 days of age while others survived past 90 d of age

behavior/neurological

tremors ( J:77226 )

• onset between 16-20 days of age; apparent at rest, but more pronounced during movement

ataxia ( J:77226 )

• mice displayed mild ataxia at 12-14 days of age

abnormal head movements ( J:77226 )

• mice exhibited jerking movement at 12-14 days of age

hindlimb paralysis ( J:77226 )

• abnormal splaying and dragging of hindlimbs with clenched paws; progressive loss of hindlimb function leading to loss of locomotor ability by 60 d of age

growth/size/body

decreased body weight ( J:77226 )

• mice weighed 33-66% less than heterozygous and wild-type littermates

homeostasis/metabolism

abnormal lipid level ( J:77226 )

• absence of galactocerebroside and sulfatide

immune system

immune system phenotype ( J:78426 )

N • normal natural killer T cell development and function

nervous system

nervous system phenotype ( J:78426 )

N • normal myelin ultrastructure; no vacuolar degeneration observed in PNS myelin

abnormal myelination ( J:78426 )

• compact myelin displayed at 24 d of age

• decrease in thickness of dorsal spinal white matter myelin

• 30% decrease in mean thickness of ventral spinal white matter myelin

• myelin splitting evident in mice 24 d of age, progression with age

• vacuolization evident in the ventral region of the spinal cord in mice 24 d of age, progression with age

• abnormal node and paranode formation

abnormal nerve conduction ( J:58935 , J:78426 )

• associated with increased distribution of potassium channel, extending through internodal region (J:58935)

• 50% reduction in compound action potential amplitude; 30-40% reduction in conductance velocity of sciatic nerve (J:78426)

Genotype
MGI:2450120

ht3

• Allelic Composition: Ugt8a^tm1Pop/Ugt8a⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

homeostasis/metabolism

abnormal lipid level ( J:77226 )

• reduced levels of galactocerebroside and sulfatide at 16 days of age

Genotype
MGI:3826778

cx4

• Allelic Composition: Aspa^nur7/Aspa^nur7; Ugt8a^tm1Pop/Ugt8a⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

nervous system

decreased oligodendrocyte number ( J:143201 )

• mice exhibit reduced numbers of oligodendrocytes compared to in wild-type mice

spongiform encephalopathy ( J:143201 )

• mice exhibit progressive neuropathy similar to in Aspa^nur7 homozygotes

abnormal myelination ( J:143201 )

• at P21, mice exhibit a 40% decrease in phosphatidyl ethanolamine in myelin compared to in wild-type mice

• at P21, normal fatty acid-containing Galc cerebroside is reduced 70% compared to in wild-type mice

• however, the level of hydroxyl fatty acid-containing Galc cerebroside is normal

behavior/neurological

impaired coordination ( J:143201 )

• at P42 to P56, mice exhibit a 50% decreased in latency to fall on a rotarod compared to wild-type mice