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| Nomenclature |
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Symbol:
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C1qtnf5tm1.1Itl
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Name:
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C1q and tumor necrosis factor related protein 5;
targeted mutation 1.1, inGenious Targeting Laboratory
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MGI ID: |
MGI:4949224 |
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Synonyms: |
C1qtnf5S163R, C1qtnf5tm1.1Igl, CTRP5S163R |
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Gene:
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C1qtnf5
Location:
Chr9:44107245-44109187 bp, + strand
Genetic Position: Chr9,
24.62 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:171089
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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C57BL/6
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Single point mutation |
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Mutation details: A loxP site was inserted upstream of exon 2. Exon 3 was replaced with one in which a C to G transversion and a neo cassette flanked with FRT and loxP sites. Flp-mediated recombination removed the neo cassette. The point mutation replaces serine with an arginine at position 163 (S163R). This mutation corresponds with the human mutation associated with late-onset retinal macular degeneration (L-ORD). (J:171089)
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any C1qtnf5 Mutation:
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7 strains or lines available |
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| References |
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Original: |
J:171089
Chavali VR et al.,
"A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration."
Hum Mol Genet 2011 May 15;20(10):2000-14
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All: |
1 reference(s)
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Analysis Tools
