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| Nomenclature |
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Symbol:
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Hc0
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Name:
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hemolytic complement;
deficient
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MGI ID: |
MGI:3027637 |
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Synonyms: |
C5-, C5-d, C5-def, C5-deficient, hco |
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Gene:
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Hc
Location:
Chr2:34838851-34916958 bp, - strand
Genetic Position: Chr2,
23.5 cM, cytoband cen-C1
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Mutation
origin |
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Strain of Origin:
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multiple strains
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Mutation
description |
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Allele
Type: |
Spontaneous |
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Mutation: |
Intragenic deletion |
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A 2 base "TA" deletion at positions 62 and 63 of an 83 base pair exon near the 5' end of the gene is found in the following mouse strains: A/HeJ, AKR/J, DBA/2J, NZB/B1NJ, SWR/J, B10.D2/oSnJ. The consequence of this deletion is the creation of a stop codon starting four bases after the deletion. A truncated product of 216 amino acids is predicted as a result although contradictory reports exist that a larger pro-C5 protein may be synthesized. Nevertheless, macrophages from mouse strains carrying this allele do not secrete complement 5. (J:5016, J:23983) |
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Phenotype
summary
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Phenotype Summary by Mammalian Phenotype terms
(show or
hide all annotated terms)
Genotypes are listed in the next section.
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Key:
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| hm |
homozygous |
ht |
heterozygous |
| cn |
conditional genotype |
cx |
complex: > 1 genome feature |
| tg |
involves transgenes |
ot |
other: hemizygous, indeterminate,... |
| N |
normal phenotype |
 |
expected model not found |
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Phenotypic
data by
genotype
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Phenotypic Data by Genotype
(show or
hide all phenotypic details)
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Notes |
This is an allele characteristic of various inbred mouse strains including the following: A/HeJ, AKR/J, DBA/2J, NZB/B1NJ, SWR/J, B10.D2/oSnJ
Hc was identified as a candidate gene for Abhr2 in a microarray analysis of lung mRNA from A/J, C3H/HeJ, and (A/J x C3H/HeJ)F1 x A/J backcross animals. Hc genotype shows statistically significant correlation to allergen-induced bronchial hyperresponsive phenotype. The A/J allele contains a 2 bp deletion resulting in deficient Hc mRNA and protein production and is associated with susceptibility to allergen-induced bronchial hyperresponsiveness. (J:108211)
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| References |
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Original: |
J:5016
Nilsson UR et al.,
"Deficiency of the fifth component of complement in mice with an inherited complement defect."
J Exp Med 1967 Jan 1;125(1):1-16
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All: |
69 reference(s)
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