Phenotypes associated with this allele

• Allele Symbol: Hlf^tm1Schb
• Allele Name: targeted mutation 1, Ueli Schibler
• Allele ID: MGI:3045480
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hlf^tm1Schb/Hlf^tm1Schb	involves: 129S2/SvPas	MGI:6161767
cx2	Dbp^tm1Schb/Dbp^tm1Schb Hlf^tm1Schb/Hlf^tm1Schb Tef^tm1Schb/Tef^tm1Schb	involves: 129P2/OlaHsd * 129S2/SvPas	MGI:3045596
cx3	Dbp^tm1Schb/Dbp^tm1Schb Hlf^tm1Schb/Hlf^tm1Schb Tef^tm1Schb/Tef^+	involves: 129P2/OlaHsd * 129S2/SvPas	MGI:3843511
cx4	Hlf^tm1Schb/Hlf^tm1Schb Tef^tm1Schb/Tef^tm1Schb	involves: 129S2/SvPas	MGI:3843515

Genotype
MGI:6161767

hm1

• Allelic Composition: Hlf^tm1Schb/Hlf^tm1Schb
• Genetic Background: involves: 129S2/SvPas

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

normal phenotype

no abnormal phenotype detected ( J:90854 )

• homozygous mutant mice are morphologically normal and fertile

Genotype
MGI:3045596

cx2

• Allelic Composition: Dbp^tm1Schb/Dbp^tm1Schb; Hlf^tm1Schb/Hlf^tm1Schb; Tef^tm1Schb/Tef^tm1Schb
• Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas

cardiovascular system

cardiac hypertrophy ( J:164398 )

hypotension ( J:164398 )

liver/biliary system

enlarged liver ( J:129710 )

• increased liver mass

mortality/aging

premature death ( J:90854 )

• 50% of mice die within the first 2 months of age due to lethal seizures

behavior/neurological

impaired behavioral response to xenobiotic ( J:129710 )

• mice are hypersensitive to xenobiotic compounds including pentobarbital

seizures ( J:90854 )

• a circadian trend of seizure occurance is observed, with 4-times more seizures occuring during early light period hours (major sleep period) than during early dark period hours (major active period)

audiogenic seizures ( J:90854 )

• observed in some mice; audiogenic seizures account for about 25% of all deceased mice

tonic-clonic seizures ( J:90854 )

• spontaneous tonic-clonic seizures that occur predominantly within slow-wave sleep during the first 2 min after transition to sleep

absence seizures ( J:90854 )

• observe a few absence-like seizures without any sign of EEG hypoactivity

nervous system

seizures ( J:90854 )

• a circadian trend of seizure occurance is observed, with 4-times more seizures occuring during early light period hours (major sleep period) than during early dark period hours (major active period)

audiogenic seizures ( J:90854 )

• observed in some mice; audiogenic seizures account for about 25% of all deceased mice

tonic-clonic seizures ( J:90854 )

• spontaneous tonic-clonic seizures that occur predominantly within slow-wave sleep during the first 2 min after transition to sleep

absence seizures ( J:90854 )

• observe a few absence-like seizures without any sign of EEG hypoactivity

abnormal brain morphology ( J:90854 )

• reduction in levels of serotonin and dopamine and increase in levels of histamine in the brain

abnormal brain wave pattern ( J:90854 )

• analysis of sleep EEG of a 12-hour light period shows a significant increase in slow-wave delta activity and a significant decrease in theta activity

• activity in all frequency bins greater than 15 Hz (the beta frequency range) is significantly increased during all vigilance states

homeostasis/metabolism

decreased circulating aldosterone level ( J:164398 )

increased circulating alanine transaminase level ( J:129710 )

• increased plasma levels of alanine aminotransferase

decreased dopamine level ( J:90854 )

• reduction in levels of dopamine in the brain

decreased serotonin level ( J:90854 )

• reduction in the levels of serotonin in the brain

increased physiological sensitivity to xenobiotic ( J:129710 )

• mice are hypersensitive to xenobiotic compounds including pentobarbital, mitoxantrone and cyclophosphamide

growth/size/body

cardiac hypertrophy ( J:164398 )

enlarged liver ( J:129710 )

• increased liver mass

Genotype
MGI:3843511

cx3

• Allelic Composition: Dbp^tm1Schb/Dbp^tm1Schb; Hlf^tm1Schb/Hlf^tm1Schb; Tef^tm1Schb/Tef⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas

behavior/neurological

seizures ( J:90854 )

• several seizure-like activities are observed in mutants, however they never develop into generalized epilepsies

absence seizures ( J:90854 )

• several absence-like seizures without any sign of EEG hypoactivity are seen

nervous system

seizures ( J:90854 )

• several seizure-like activities are observed in mutants, however they never develop into generalized epilepsies

absence seizures ( J:90854 )

• several absence-like seizures without any sign of EEG hypoactivity are seen

abnormal brain wave pattern ( J:90854 )

• analysis of sleep EEG of a 12-hour light period shows an increase in slow-wave delta activity and a decrease in theta activity, however this is much less pronounced than in triple homozygous mutants

• activity in all frequency bins greater than 15 Hz (the beta frequency range) is increased in waking mutants

Genotype
MGI:3843515

cx4

• Allelic Composition: Hlf^tm1Schb/Hlf^tm1Schb; Tef^tm1Schb/Tef^tm1Schb
• Genetic Background: involves: 129S2/SvPas

mortality/aging

premature death ( J:90854 )

• succumb to sudden death