Phenotypes Associated with This Genotype

Genotype
MGI:2180387

• Allelic Composition: Itpr1^opt/Itpr1^opt
• Genetic Background: involves: C57BLKS

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

mortality/aging

lethality at weaning, complete penetrance ( J:13536 , J:28829 , J:37547 )

• mice die by weaning age or earlier (J:13536)

• mice die at 3-4 weeks of age (J:28829)

behavior/neurological

impaired righting response ( J:13536 )

• at 15-20 days of age, mice struggle to right themselves

opisthotonus ( J:13536 )

• severe after 15-20 days of age

impaired balance ( J:13536 )

• at 10 days of age, mice exhibit a loss of balance when standing or moving

• at 15-20 days of age, mice constantly fall over on their sides

impaired coordination ( J:50383 )

weakness ( J:50383 )

• weak and sickly appearance by 7 days of age

abnormal locomotor behavior ( J:28829 , J:37547 )

• abnormal locomotor ability (J:28829)

abnormal locomotor coordination ( J:50383 )

• abnormal walking

seizures ( J:28829 , J:37547 , J:50383 )

• range from subtle tremors to marked convulsions; progressive severity with age (J:28829)

• visible seizures appear by P14; range from body tremors to full tonic clonic convulsions; progressive with age (J:37547)

cellular

abnormal cell physiology ( J:50383 )

• quisqualate (QA) treatment of Purkinje neurons elicited a similar calcium release as controls; repeated QA application showed a less attenuated response in mutant cells than in controls

growth/size/body

decreased body size ( J:28829 , J:37547 , J:50383 )

• reported as smaller than littermates (J:28829)

muscle

opisthotonus ( J:13536 )

• severe after 15-20 days of age

nervous system

nervous system phenotype ( J:13536 , J:50383 )

N • gross anatomy of the cerebellum appears normal (J:13536)

N • normal cerebellum morphology; normal numbers and morphology of Purkinje cells (J:50383)

seizures ( J:28829 , J:37547 , J:50383 )

• range from subtle tremors to marked convulsions; progressive severity with age (J:28829)

• visible seizures appear by P14; range from body tremors to full tonic clonic convulsions; progressive with age (J:37547)