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Targeted Allele Detail
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: Chr9:44107245-44109187 bp, + strand  Genetic Position: Chr9, 24.62 cM
Germline Transmission:  Earliest citation of germline transmission: J:171089
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  C57BL/6
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
Mutation detailsA 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Find Mice (IMSR)
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
Carrying any C1qtnf5 Mutation:  10 strains or lines available
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:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.11
The Jackson Laboratory