All Phenotypes C1qa<tm1Mjw> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

C1qa^tm1Mjw
targeted mutation 1, Mark J Walport
MGI:2158701

Summary

12 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	C1qa^tm1Mjw/C1qa^tm1Mjw	involves: 129P2/Ola * 129S/SvEv	MGI:3842621
hm2	C1qa^tm1Mjw/C1qa^tm1Mjw	involves: 129P2/Ola * 129S/SvEv * C57BL/6	MGI:2384126
hm3	C1qa^tm1Mjw/C1qa^tm1Mjw	involves: 129S/SvEv	MGI:4452482
cx4	C1qa^tm1Mjw/C1qa^tm1Mjw Sle21^129P2/Ola/Sle21^129P2/Ola	involves: 129P2/Ola * 129S/SvEv * C57BL/6	MGI:3701669
cx5	C1qa^tm1Mjw/C1qa^tm1Mjw Sle21^129P2/Ola/Sle21^C57BL/6	involves: 129P2/Ola * 129S/SvEv * C57BL/6	MGI:3701670
cx6	C1qa^tm1Mjw/C1qa^tm1Mjw Sle18^C57BL/6/Sle18^C57BL/6	involves: 129P2/Ola * 129S/SvEv * C57BL/6	MGI:3701672
cx7	C1qa^tm1Mjw/C1qa^tm1Mjw Sle21^129P2/Ola/? Sle18^C57BL/6/Sle18^C57BL/6	involves: 129P2/Ola * 129S/SvEv * C57BL/6	MGI:3701673
cx8	C1qa^tm1Mjw/C1qa^tm1Mjw Sle19^C57BL/6/?	involves: 129P2/Ola * 129S/SvEv * C57BL/6	MGI:3701675
cx9	C1qa^tm1Mjw/C1qa^tm1Mjw Sle19^C57BL/6/?	involves: 129S/SvEv * 129X1/Sv * C57BL/6	MGI:3701674
cx10	C1qa^tm1Mjw/C1qa^tm1Mjw Sle18^C57BL/6/Sle18^C57BL/6	involves: 129S/SvEv * 129X1/Sv * C57BL/6	MGI:3701671
cx11	C1qa^tm1Mjw/C1qa^tm1Mjw Sle16^{129S6/SvEvTac}/Sle16^{129S6/SvEvTac}	involves: 129S/SvEv * 129X1/Sv * C57BL/6	MGI:3701667
cx12	C1qa^tm1Mjw/C1qa^tm1Mjw Sle16^{129S6/SvEvTac}/Sle16^C57BL/6	involves: 129S/SvEv * 129X1/Sv * C57BL/6	MGI:3701668

Allelic Composition	C1qa^tm1Mjw/C1qa^tm1Mjw
Genetic Background	involves: 129P2/Ola * 129S/SvEv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
C1qa^tm1Mjw mutation (1 available); any C1qa mutation (22 available)

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

immune system

immune system phenotype ( J:47315 )

N	• Background Sensitivity: mutants on a 129P2/Ola and 129S/SvEv background do not develop glomerulonephritis or autoantibodies as observed in mutants on a 129P2/Ola, 129S/SvEv, and C57BL/6 background

Allelic Composition	C1qa^tm1Mjw/C1qa^tm1Mjw
Genetic Background	involves: 129P2/Ola * 129S/SvEv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
C1qa^tm1Mjw mutation (1 available); any C1qa mutation (22 available)

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

mortality/aging

premature death ( J:47315 )

• 15% die at 4 - 6 months of age

immune system

increased anti-nuclear antigen antibody level ( J:47315 )

• mutants develop high titers of anti-nuclear antibodies

increased anti-histone antibody level ( J:47315 )

glomerulonephritis ( J:47315 )

• Background Sensitivity: severe proliferative crescentic glomerulonephritis evident in 27% mice with electron-dense immune deposits localized in the subendothelial and subepithelial areas

• Background Sensitivity: striking feature is presence of multiple apoptotic bodies in diseased glomeruli

increased susceptibility to bacterial infection ( J:83712 )

• animals challenged with virulent pneumococci develop bacteremia and pneumonia after passive immunization with human IgG1 or human IgG2 unlike wild-type mice that are protected after immunization

renal/urinary system

increased renal glomerulus apoptosis ( J:47315 )

• among mutants without glomerulonephritis, significantly greater numbers of glomerular apoptotic bodies are seen than in controls

glomerulonephritis ( J:47315 )

• Background Sensitivity: severe proliferative crescentic glomerulonephritis evident in 27% mice with electron-dense immune deposits localized in the subendothelial and subepithelial areas

• Background Sensitivity: striking feature is presence of multiple apoptotic bodies in diseased glomeruli

glomerular crescent ( J:47315 )

• Background Sensitivity: proliferation of cells in Bowman's space forming glomerular crescents

cellular

increased renal glomerulus apoptosis ( J:47315 )

• among mutants without glomerulonephritis, significantly greater numbers of glomerular apoptotic bodies are seen than in controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
systemic lupus erythematosus		DOID:9074	OMIM:152700 OMIM:300809 OMIM:605480 OMIM:608437 OMIM:609903 OMIM:609939 OMIM:610065 OMIM:610066 OMIM:612254 OMIM:612378 OMIM:613145 OMIM:614420	J:47315

Allelic Composition	C1qa^tm1Mjw/C1qa^tm1Mjw
Genetic Background	involves: 129S/SvEv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
C1qa^tm1Mjw mutation (1 available); any C1qa mutation (22 available)

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

nervous system

seizures ( J:159281 )

• 9 of 10 mice exhibit stimuli evoked epileptiform activity, including all-or-none polyphasic events of variable form and latency lasting 150-400 ms that are associated with bursts of action potentials, unlike similarly treated wild-type mice

• 17 of 23 cortical layer V slices exhibit spontaneous epileptiform events with polyphasic morphology and duration similarly to the evoked epileptiform potentials unlike wild-type slices

• epileptiform activity is widespread in the cortex

• however, epileptiform activity is blocked by stimuli 2 or more times threshold

absence seizures ( J:159281 )

• mice exhibit spontaneous atypical absence seizures consisting of behavioral arrest with bihemispheric irregular electroencephalogram spike and slow wave activity lasting from 5 to 60 s unlike wild-type mice

• however, treatment with ethosuximide shortens seizure duration

abnormal hippocampus pyramidal cell morphology ( J:159281 )

• layer V pyramidal neurons exhibit a greater number of presynaptic excitatory synapses in different layers of the cortex compared with wild-type mice without increased strength of connectivity

abnormal synaptic bouton morphology ( J:159281 )

• axonal bouton density is increased in pyramidal neurons compared to in wild-type cells

• the ratio of small to big boutons is increased compared to in wild-type mice

abnormal excitatory postsynaptic currents ( J:159281 )

• whole cell recordings reveal spontaneous prolonged bursts of polysynaptic excitatory postsynaptic currents (EPSCs) unlike in wild-type cells

• EPSC maps are larger with a larger hot spot ratio than in wild-type mice

• however, EPSC amplitude is normal

increased excitatory postsynaptic current frequency ( J:159281 )

• in the presence of tetrodotoxin, the frequency of spontaneous EPSCs in layer V pyramidal cells is higher than in wild-type mice

abnormal inhibitory postsynaptic currents ( J:159281 )

• whole cell recordings reveal spontaneous prolonged bursts of polysynaptic inhibitory postsynaptic currents (IPSCs) unlike in wild-type cells

• however, spontaneous IPSCs and miniature IPSCs frequencies are normal

increased miniature excitatory postsynaptic current frequency ( J:159281 )

• in the presence of tetrodotoxin, the frequency of miniature excitatory postsynaptic currents in layer V pyramidal cells is higher than in wild-type mice

behavior/neurological

seizures ( J:159281 )

• 17 of 23 cortical layer V slices exhibit spontaneous epileptiform events with polyphasic morphology and duration similarly to the evoked epileptiform potentials unlike wild-type slices

• epileptiform activity is widespread in the cortex

• however, epileptiform activity is blocked by stimuli 2 or more times threshold

absence seizures ( J:159281 )

• however, treatment with ethosuximide shortens seizure duration

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
epilepsy		DOID:1826		J:159281

Allelic Composition	C1qa^tm1Mjw/C1qa^tm1Mjw Sle21^129P2/Ola/Sle21^129P2/Ola
Genetic Background	involves: 129P2/Ola * 129S/SvEv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
C1qa^tm1Mjw mutation (1 available); any C1qa mutation (22 available)
Sle21^129P2/Ola mutation (0 available); any Sle21 mutation (0 available)

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

immune system

increased susceptibility to systemic lupus erythematosus ( J:118645 )

increased anti-nuclear antigen antibody level ( J:118645 )

increased anti-chromatin antibody level ( J:118645 )

increased anti-double stranded DNA antibody level ( J:118645 )

increased anti-single stranded DNA antibody level ( J:118645 )

Allelic Composition	C1qa^tm1Mjw/C1qa^tm1Mjw Sle21^129P2/Ola/Sle21^C57BL/6
Genetic Background	involves: 129P2/Ola * 129S/SvEv * C57BL/6

Find Mice

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

immune system

increased susceptibility to systemic lupus erythematosus ( J:118645 )

increased anti-nuclear antigen antibody level ( J:118645 )

increased anti-chromatin antibody level ( J:118645 )

increased anti-double stranded DNA antibody level ( J:118645 )

increased anti-single stranded DNA antibody level ( J:118645 )

Allelic Composition	C1qa^tm1Mjw/C1qa^tm1Mjw Sle18^C57BL/6/Sle18^C57BL/6
Genetic Background	involves: 129P2/Ola * 129S/SvEv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
C1qa^tm1Mjw mutation (1 available); any C1qa mutation (22 available)
Sle18^C57BL/6 mutation (0 available); any Sle18 mutation (0 available)

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

immune system

increased susceptibility to systemic lupus erythematosus ( J:118645 )

increased anti-nuclear antigen antibody level ( J:118645 )

Allelic Composition	C1qa^tm1Mjw/C1qa^tm1Mjw Sle21^129P2/Ola/? Sle18^C57BL/6/Sle18^C57BL/6
Genetic Background	involves: 129P2/Ola * 129S/SvEv * C57BL/6

Find Mice

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

immune system

increased susceptibility to systemic lupus erythematosus ( J:118645 )

increased anti-nuclear antigen antibody level ( J:118645 )

Allelic Composition	C1qa^tm1Mjw/C1qa^tm1Mjw Sle19^C57BL/6/?
Genetic Background	involves: 129P2/Ola * 129S/SvEv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
C1qa^tm1Mjw mutation (1 available); any C1qa mutation (22 available)
Sle19^C57BL/6 mutation (0 available); any Sle19 mutation (0 available)

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

immune system

increased susceptibility to systemic lupus erythematosus ( J:118645 )

increased anti-nuclear antigen antibody level ( J:118645 )

Allelic Composition	C1qa^tm1Mjw/C1qa^tm1Mjw Sle19^C57BL/6/?
Genetic Background	involves: 129S/SvEv * 129X1/Sv * C57BL/6

Find Mice

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

immune system

increased susceptibility to systemic lupus erythematosus ( J:118645 )

increased anti-nuclear antigen antibody level ( J:118645 )

Allelic Composition	C1qa^tm1Mjw/C1qa^tm1Mjw Sle18^C57BL/6/Sle18^C57BL/6
Genetic Background	involves: 129S/SvEv * 129X1/Sv * C57BL/6

Find Mice

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

immune system

increased susceptibility to systemic lupus erythematosus ( J:118645 )

increased anti-nuclear antigen antibody level ( J:118645 )

Allelic Composition	C1qa^tm1Mjw/C1qa^tm1Mjw Sle16^{129S6/SvEvTac}/Sle16^{129S6/SvEvTac}
Genetic Background	involves: 129S/SvEv * 129X1/Sv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
C1qa^tm1Mjw mutation (1 available); any C1qa mutation (22 available)
Sle16^{129S6/SvEvTac} mutation (0 available); any Sle16 mutation (0 available)

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

immune system

increased susceptibility to systemic lupus erythematosus ( J:118645 )

increased anti-nuclear antigen antibody level ( J:118645 )

increased anti-chromatin antibody level ( J:118645 )

increased anti-double stranded DNA antibody level ( J:118645 )

increased anti-single stranded DNA antibody level ( J:118645 )

Allelic Composition	C1qa^tm1Mjw/C1qa^tm1Mjw Sle16^{129S6/SvEvTac}/Sle16^C57BL/6
Genetic Background	involves: 129S/SvEv * 129X1/Sv * C57BL/6

Find Mice

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

immune system

increased susceptibility to systemic lupus erythematosus ( J:118645 )

increased anti-nuclear antigen antibody level ( J:118645 )

increased anti-chromatin antibody level ( J:118645 )

increased anti-double stranded DNA antibody level ( J:118645 )

increased anti-single stranded DNA antibody level ( J:118645 )

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