All Phenotypes Gnaq<tm1Soff> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gnaq^tm1Soff/Gnaq^tm1Soff	involves: 129S1/Sv	MGI:4940205
hm2	Gnaq^tm1Soff/Gnaq^tm1Soff	involves: 129S1/Sv * C57BL/6	MGI:3037821
cx3	Gna11^tm1Soff/Gna11^tm1Soff Gnaq^tm1Soff/Gnaq^tm1Soff	involves: 129S1/Sv * 129S7/SvEvBrd * C57BL/6	MGI:2661813
cx4	Gna11^tm1Soff/Gna11⁺ Gnaq^tm1Soff/Gnaq⁺	involves: 129S1/Sv * 129S7/SvEvBrd * C57BL/6	MGI:3037554
cx5	Gna11^tm1Soff/Gna11^tm1Soff Gnaq^tm1Soff/Gnaq⁺	involves: 129S1/Sv * 129S7/SvEvBrd * C57BL/6	MGI:3037555
cx6	Gna11^tm1Soff/Gna11⁺ Gnaq^tm1Soff/Gnaq^tm1Soff	involves: 129S1/Sv * 129S7/SvEvBrd * C57BL/6	MGI:3037556
cx7	Gna12^tm1Citb/Gna12^tm1Citb Gnaq^tm1Soff/Gnaq^tm1Soff	involves: 129S1/Sv * C57BL/6	MGI:3037550
cx8	Gna12^tm1Citb/Gna12⁺ Gnaq^tm1Soff/Gnaq^tm1Soff	involves: 129S1/Sv * C57BL/6	MGI:3037551

Allelic Composition	Gnaq^tm1Soff/Gnaq^tm1Soff
Genetic Background	involves: 129S1/Sv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnaq^tm1Soff mutation (1 available); any Gnaq mutation (24 available)

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

hematopoietic system

decreased platelet aggregation ( J:114266 )

• platelets exhibit reduced thrombus formation when blood is perfused over a collagen surface at high shear speeds unlike wild-type platelets

• mice are protected against thrombosis in a superficial injury model and a severe arterial injury model unlike wild-type mice

homeostasis/metabolism

decreased platelet aggregation ( J:114266 )

• platelets exhibit reduced thrombus formation when blood is perfused over a collagen surface at high shear speeds unlike wild-type platelets

• mice are protected against thrombosis in a superficial injury model and a severe arterial injury model unlike wild-type mice

♀	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 )

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

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

• 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

Allelic Composition	Gna11^tm1Soff/Gna11^tm1Soff Gnaq^tm1Soff/Gnaq^tm1Soff
Genetic Background	involves: 129S1/Sv * 129S7/SvEvBrd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gna11^tm1Soff mutation (0 available); any Gna11 mutation (24 available)
Gnaq^tm1Soff mutation (1 available); any Gnaq mutation (24 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:49140 )

• mutant embryos appear normal ar E9.5, growth arrests prior to E10.5 and die by E11

cardiovascular system

trabecula carnea hypoplasia ( J:49140 )

• apparent by E9.5; underdeveloped trabecular ventricular myocardium

ventricular myocardium compact layer hypoplasia ( J:49140 )

• apparent by E9.5; underdeveloped subepicardial layer

hemopericardium ( J:49140 )

• enlarged heart due to bleeding into the space between the myocardial and pericardial layers

homeostasis/metabolism

hemopericardium ( J:49140 )

• enlarged heart due to bleeding into the space between the myocardial and pericardial layers

muscle

trabecula carnea hypoplasia ( J:49140 )

• apparent by E9.5; underdeveloped trabecular ventricular myocardium

ventricular myocardium compact layer hypoplasia ( J:49140 )

• apparent by E9.5; underdeveloped subepicardial layer

Allelic Composition	Gna11^tm1Soff/Gna11⁺ Gnaq^tm1Soff/Gnaq⁺
Genetic Background	involves: 129S1/Sv * 129S7/SvEvBrd * C57BL/6

Find Mice

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

normal phenotype

no abnormal phenotype detected ( J:49140 )

• mice are viable and fertile

Allelic Composition	Gna11^tm1Soff/Gna11^tm1Soff Gnaq^tm1Soff/Gnaq⁺
Genetic Background	involves: 129S1/Sv * 129S7/SvEvBrd * C57BL/6

Find Mice

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

mortality/aging

neonatal lethality, complete penetrance ( J:49140 )

• animals die within 1-2 hours after birth

behavior/neurological

hyporesponsive to tactile stimuli ( J:49140 )

• poorly responsive to tactile stiluli

cardiovascular system

abnormal heart size ( J:49140 )

• hearts are described as malformed, either hypertrophic or hypotrophic

growth/size/body

decreased body size ( J:49140 )

• animals appear runted at birth

respiratory system

abnormal breathing pattern ( J:49140 )

• arrythmic breathing

decreased pulmonary respiratory rate ( J:49140 )

• animals breathed at approximately half the rate of controls

homeostasis/metabolism

hypoxia ( J:49140 )

• apparent at birth

Allelic Composition	Gna11^tm1Soff/Gna11⁺ Gnaq^tm1Soff/Gnaq^tm1Soff
Genetic Background	involves: 129S1/Sv * 129S7/SvEvBrd * C57BL/6

Find Mice

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

mortality/aging

neonatal lethality, complete penetrance ( J:49140 )

• animals die within 1-2 hours after birth

behavior/neurological

hyporesponsive to tactile stimuli ( J:49140 )

• poorly responsive to tactile stimuli

cardiovascular system

common ventricle ( J:49140 )

• high incidence of univentricular hearts

craniofacial

short mandible ( J:49140 )

incus hypoplasia ( J:49140 )

• poorly developed incus

malleus hypoplasia ( J:49140 )

• poorly developed malleus

stapes hypoplasia ( J:49140 )

• poorly developed stapes

growth/size/body

decreased body size ( J:49140 )

• animals appear runted at birth

hearing/vestibular/ear

incus hypoplasia ( J:49140 )

• poorly developed incus

malleus hypoplasia ( J:49140 )

• poorly developed malleus

stapes hypoplasia ( J:49140 )

• poorly developed stapes

abnormal tympanic ring morphology ( J:49140 )

• vestigial tympanic ring

respiratory system

abnormal breathing pattern ( J:49140 )

• arrhythmic breathing

decreased pulmonary respiratory rate ( J:49140 )

• animals breathed at approximately half the rate of controls

skeleton

short mandible ( J:49140 )

incus hypoplasia ( J:49140 )

• poorly developed incus

malleus hypoplasia ( J:49140 )

• poorly developed malleus

stapes hypoplasia ( J:49140 )

• poorly developed stapes

homeostasis/metabolism

hypoxia ( J:49140 )

• noted at birth

Allelic Composition	Gna12^tm1Citb/Gna12^tm1Citb Gnaq^tm1Soff/Gnaq^tm1Soff
Genetic Background	involves: 129S1/Sv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gna12^tm1Citb mutation (0 available); any Gna12 mutation (21 available)
Gnaq^tm1Soff mutation (1 available); any Gnaq mutation (24 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:77728 )

• mutant embryos appear normal until E12, then development appears to stop; embryos begin resorbtion at E13.5

Allelic Composition	Gna12^tm1Citb/Gna12⁺ Gnaq^tm1Soff/Gnaq^tm1Soff
Genetic Background	involves: 129S1/Sv * C57BL/6

Find Mice

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

mortality/aging

premature death ( J:77728 )

• fewer than expected homozygotes were present at P30

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