Phenotypes associated with this allele

• Allele Symbol: Itpr1^tm1Tno
• Allele Name: targeted mutation 1, Tetsuo Noda
• Allele ID: MGI:2180360
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Itpr1^tm1Tno/Itpr1^tm1Tno	involves: 129S4/SvJae * C57BL/6	MGI:2180389

Genotype
MGI:2180389

hm1

• Allelic Composition: Itpr1^tm1Tno/Itpr1^tm1Tno
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:30633 )

• at postnatal day 10, homozygotes were found with a frequency of only 5.5%

prenatal lethality, incomplete penetrance ( J:30633 )

• most homozygous mutant mice die in utero, and some die postnatally

behavior/neurological

ataxia ( J:30633 )

• age of onset was P9; more prominent when animals were treated with anticonvulsants for seizures

seizures ( J:30633 )

• truncal contorsions apparent by P15

tonic-clonic seizures ( J:30633 )

• tonic clonic seizures prevailing by P20-23

nervous system

seizures ( J:30633 )

• truncal contorsions apparent by P15

tonic-clonic seizures ( J:30633 )

• tonic clonic seizures prevailing by P20-23

decreased brain size ( J:30633 )

• overall brain size was decreased to ~40% in weight, but the gross anatomy appeared normal

abnormal excitatory postsynaptic currents ( J:30633 )

• the time constant for parallel fiber mediated excitatory post synaptic current (e.p.s.c) decay was significantly shorter in homozygous mice