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| Nomenclature |
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Symbol:
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C1qatm1Mjw
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Name:
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complement component 1, q subcomponent, alpha polypeptide;
targeted mutation 1, Mark J Walport
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MGI ID: |
MGI:2158701 |
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Synonyms: |
C1q-, C1qa- |
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Gene:
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C1qa
Location:
Chr4:136895917-136898803 bp, - strand
Genetic Position: Chr4,
69.05 cM
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:47315
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Parent Cell Line:
| CCE/EK.CCE (ES Cell) |
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Strain of Origin:
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129S/SvEv-Gpi1c
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Mutation description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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Mutation details: A neomycin selection cassette was inserted into exon 1 of the gene. Northern blot analysis on samples derived from spleen and liver of homozygous mice demonstrated that no transcript is produced from this allele. Western blot and ELISA analysis confirmed that no protein was detected in samples derived from homozygous mice. (J:47315)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
Phenotypic Similarity to Human Syndrome: Epilepsy (J:159281)
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| References |
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Original: |
J:47315
Botto M et al.,
"Homozygous C1q deficiency causes glomerulonephritis associated with multiple apoptotic bodies [see comments]"
Nat Genet 1998 May;19(1):56-9
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All: |
85 reference(s)
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