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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
In Structures Affected by this Mutation: 8 anatomical structures
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:  13 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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MGI 6.12
The Jackson Laboratory