Phenotypes associated with this allele

• Allele Symbol: Hprt1^tm6Detl
• Allele Name: targeted mutation 6, Peter J Detloff
• Allele ID: MGI:2668521
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hprt1^tm6Detl/Hprt1^tm6Detl	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:2668527
ot2	Hprt1^tm6Detl/Y	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:2668535

Genotype
MGI:2668527

hm1

• Allelic Composition: Hprt1^tm6Detl/Hprt1^tm6Detl
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

mortality/aging

premature death ( J:84451 )

♀ • median age of death is 11 months

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:84451 )

♀ • mutants lose the ability to escape a tail suspension by climbing onto the observer's hand

decreased locomotor activity ( J:84451 )

♀ • reduced nocturnal activity; mutants roam only 25% of the 2 minute periods during 12 hour dark cycles compared to 50% in wild-type mice

♀ • inactivity in open cage

♀ • age of onset was approximately 1 month later than observed in Hprt^tm2Detl mutant mice

seizures ( J:84451 )

♀ • 12 of 16 mutants have seizures at 7-9 months of age

nervous system

seizures ( J:84451 )

♀ • 12 of 16 mutants have seizures at 7-9 months of age

neuronal intranuclear inclusions ( J:84451 )

♀ • neuronal intranuclear inclusions evident

Genotype
MGI:2668535

ot2

• Allelic Composition: Hprt1^tm6Detl/Y
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

mortality/aging

premature death ( J:84451 )

♂ • median age of death is 11 months

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:84451 )

♂ • mutants lose the ability to escape a tail suspension by climbing onto the observer's hand

decreased locomotor activity ( J:84451 )

♂ • reduced nocturnal activity; mutants roam only 25% of the 2 minute periods during 12 hour dark cycles compared to 50% in wild-type mice

♂ • inactivity in open cage

♂ • age of onset is approximately 1 month later than observed in Hprt^tm2Detl mutant mice

seizures ( J:84451 )

♂ • 12 of 16 mutants have seizures at 7-9 months of age

nervous system

seizures ( J:84451 )

♂ • 12 of 16 mutants have seizures at 7-9 months of age

neuronal intranuclear inclusions ( J:84451 )

♂ • neuronal intranuclear inclusions evident