C1qtnf5^tm1.1Itl
Targeted Allele Detail

Summary

• Symbol: C1qtnf5^tm1.1Itl
• Name: C1q and tumor necrosis factor related protein 5; targeted mutation 1.1, inGenious Targeting Laboratory
• MGI ID: MGI:4949224
• Synonyms: C1qtnf5^S163R, C1qtnf5^tm1.1Igl, CTRP5^S163R, L-ORD
• Gene: C1qtnf5 Location: Chr9:44018542-44020484 bp, + strand Genetic Position: Chr9, 24.62 cM
• Alliance: C1qtnf5^tm1.1Itl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:171089
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• 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)

Disease models

Expression

In Structures Affected by this Mutation:

7 anatomical structure(s)

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: 14 strains or lines available

References

• 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)