Phenotypes Associated with This Genotype

Genotype
MGI:3037821

• Allelic Composition: Gnaq^tm1Soff/Gnaq^tm1Soff
• Genetic Background: involves: 129S1/Sv * C57BL/6

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:42882 , J:44598 )

• incomplete penetrance; postulated to be due to intraabdominal bleeding caused by birth trauma (J:44598)

behavior/neurological

ataxia ( J:44598 )

• mice exhibit an ataxic gait described as tottering and wobbling

impaired coordination ( J:44598 )

• obvious by 3 weeks of age; animals exhibit jerky movements with balance defects and occasional falls; mice will fall off a rotarod immediately while controls stayed on

hematopoietic system

abnormal platelet physiology ( J:42882 , J:118488 )

• platelets from homozygous mice failed to aggregate or release ATP upon activation; however, cell shape changes consistent with activation were noted (J:42882)

• intracellular calcium was not mobilized and InsP3 was not formed upon platelet stimulation (J:42882)

• blood platelet counts were similar to controls (J:42882)

• in high shear stress experiments, platelets form small aggregates that are no more than 2 cell layers thick and total platelet deposition is 70% less than in wild-type mice (J:118488)

• however, platelet calcium response is normal (J:118488)

nervous system

nervous system phenotype ( J:44598 , J:126972 )

N • no overt defects in brain architecture was detected; synaptic transmission was similar to controls in stimulus intensity and PPF tests (J:44598)

N • hippocampus is indistinguishable from wild-type in overall structure and gross morphology (J:126972)

N • beta-adrenergic modulation of sI_AHP is normal in hippocampus of mutants (J:126972)

abnormal innervation ( J:44598 )

• defect in regression of supernumerary climbing fibers; Purkinje cells are multiply innervated by climbing fibers and remain so after postnatal week 3

abnormal nervous system electrophysiology ( J:126972 )

abnormal afterhyperpolarization ( J:126972 )

• in hippocampus, apamin-sensitive I_AHP in absence of neuromodulatory agents are intrinsically smaller than in wild-type

• effects of metabotropic glutamate receptor agonists carbachol and DHPG on sI_AHP are strongly reduced

abnormal glutamate-mediated receptor currents ( J:126972 )

absent long-term depression ( J:70180 )

• exhibited in homozygous mice when either induced by agonist or by paired-pulse low frequency stimulation

homeostasis/metabolism

abnormal platelet physiology ( J:42882 , J:118488 )

• platelets from homozygous mice failed to aggregate or release ATP upon activation; however, cell shape changes consistent with activation were noted (J:42882)

• intracellular calcium was not mobilized and InsP3 was not formed upon platelet stimulation (J:42882)

• blood platelet counts were similar to controls (J:42882)

• in high shear stress experiments, platelets form small aggregates that are no more than 2 cell layers thick and total platelet deposition is 70% less than in wild-type mice (J:118488)

• however, platelet calcium response is normal (J:118488)

increased bleeding time ( J:42882 )

• in a tail tip amputation test, homozygous mice continued to bleed from the wound for 30 minutes or more; controls stopped bleeding in 4-8 minutes