Phenotypes associated with this allele

• Allele Symbol: Septin5^tm1Wtr
• Allele Name: targeted mutation 1, William S Trimble
• Allele ID: MGI:2669970
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Septin5^tm1Wtr/Septin5^tm1Wtr	involves: 129S1/Sv * 129X1/SvJ	MGI:3639331
hm2	Septin5^tm1Wtr/Septin5^tm1Wtr	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:2670571
cx3	Septin3^tm1Wtr/Septin3^tm1Wtr Septin5^tm1Wtr/Septin5^tm1Wtr	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:3822554

Genotype
MGI:3639331

hm1

• Allelic Composition: Septin5^tm1Wtr/Septin5^tm1Wtr
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

hematopoietic system

hematopoietic system phenotype ( J:109519 )

N • platelet counts, platelet size as viewed by the forward-scatter profile produced by FACS analysis, and platelet ultrastructure viewed by transmission electron microscopy all appear similar in mutant and control mice

abnormal platelet physiology ( J:109519 )

• mutant platelets release more stored serotonin in the presence of subthreshold levels of collagen

• serotonin release from mutant ADP-stimulated platelets was indistinguishable from background levels, reflecting the lack of ADP to stimulate platelet secretion although it can support platelet aggregation

• in the presence of the thromboxane A2 analogue U46619, mutant platelets released more serotonin than platelets from control animals confirming that mutant platelets have a hyperresponsive degranulation phenotype

increased platelet aggregation ( J:109519 )

• both mutant and control platelets respond to subthreshold levels of collagen, but mutant platelets support an enhanced aggregation with an agonist requiring a platelet secretory response

homeostasis/metabolism

abnormal platelet physiology ( J:109519 )

• mutant platelets release more stored serotonin in the presence of subthreshold levels of collagen

• serotonin release from mutant ADP-stimulated platelets was indistinguishable from background levels, reflecting the lack of ADP to stimulate platelet secretion although it can support platelet aggregation

• in the presence of the thromboxane A2 analogue U46619, mutant platelets released more serotonin than platelets from control animals confirming that mutant platelets have a hyperresponsive degranulation phenotype

increased platelet aggregation ( J:109519 )

• both mutant and control platelets respond to subthreshold levels of collagen, but mutant platelets support an enhanced aggregation with an agonist requiring a platelet secretory response

Genotype
MGI:2670571

hm2

• Allelic Composition: Septin5^tm1Wtr/Septin5^tm1Wtr
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

nervous system

nervous system phenotype ( J:84539 )

N • in vitro, this gene appears dispensable for the formation of dendrites and synapses on primary hippocampal neuron cultures

N • synaptic transmission in mutant mice appears similar to controls, as assessed by measuring fEPSPs from the CA1 region of the hippocampus; short-term plasticity also appears normal as assesed by paired-pulse facilitation and posttetanic potentiation

N • the number of synaptic vesicles in the readily releasable pool or the rate of replenishment of synaptic vesicles in hippocampal slices is similar in mutant and control mice

increased prepulse inhibition ( J:147200 )

• Background Sensitivity: mutant mice exhibit higher levels of PPI than controls; the response is higher than in mutant mice that were backcrossed one generation to 129X1/SvJ and then interbred

behavior/neurological

behavior/neurological phenotype ( J:147200 )

N • thigmotaxis is unaffected in mutant mice compared to controls

N • mobility in a tail suspension test is unaffected in mutant mice compared to controls

abnormal spatial learning ( J:147200 )

• mice did not improve performance in a L-maze baited food test; mutants did not find the food faster after training unlike controls

decreased anxiety-related response ( J:147200 )

• mutant mice spend more time in the open arms of an elevated plus maze than controls, although the number of entries to the open armsis similar to controls

increased startle reflex ( J:147200 )

• Background Sensitivity: mutant mice exhibit a basally higher startle response than controls; the response is higher than in mutant mice that were backcrossed one generation to 129X1/SvJ and then interbred

abnormal social/conspecific interaction behavior ( J:147200 )

• Background Sensitivity: mutant mice exhibit lower levels of active social interaction; this effect is abrogated in mice that were backcrossed one generation to 129X1/SvJ and then interbred

Genotype
MGI:3822554

cx3

• Allelic Composition: Septin3^tm1Wtr/Septin3^tm1Wtr; Septin5^tm1Wtr/Septin5^tm1Wtr
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

nervous system

nervous system phenotype ( J:142823 )

N • mice exhibit normal axon outgrowth, hippocampal architecture, nerve terminal ultrastructure, paired pulse facilitation, excitatory postsynaptic current, synaptic vesicle pool recycling, replenishment of immediately releasable pool of synaptic vesicles, and replenishment of readily releasable pool of synaptic vesicles