C1qtnf5tm1.1Itl
Targeted Allele Detail
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| Symbol: |
C1qtnf5tm1.1Itl |
| Name: |
C1q and tumor necrosis factor related protein 5; targeted mutation 1.1, inGenious Targeting Laboratory |
| MGI ID: |
MGI:4949224 |
| Synonyms: |
C1qtnf5S163R, C1qtnf5tm1.1Igl, CTRP5S163R, L-ORD |
| Gene: |
C1qtnf5 Location: Chr9:44018542-44020484 bp, + strand Genetic Position: Chr9, 24.62 cM
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| Alliance: |
C1qtnf5tm1.1Itl page
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| Germline Transmission: |
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: |
C57BL/6
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| Allele Type: |
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Targeted (Humanized sequence) |
| Mutations: |
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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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View phenotypes and curated references for all genotypes (concatenated display).
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| Mouse strains and cell lines
available from the International Mouse Strain Resource
(IMSR) |
| Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available
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| Carrying any C1qtnf5 Mutation: |
14 strains or lines available
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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 |
| All: |
4 reference(s) |
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Analysis Tools
