C1qtnf5^tm1.1Geno
Targeted Allele Detail

Summary

• Symbol: C1qtnf5^tm1.1Geno
• Name: C1q and tumor necrosis factor related protein 5; targeted mutation 1.1, Genoway
• MGI ID: MGI:5309003
• Synonyms: C1qtnf5^Ser163Arg
• Gene: C1qtnf5 Location: Chr9:44018542-44020484 bp, + strand Genetic Position: Chr9, 24.62 cM
• Alliance: C1qtnf5^tm1.1Geno page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:180961
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

Allele Type: Targeted (Humanized sequence) Mutations: Insertion, Single point mutation Mutation details: Exon 14 was replaced with a loxP site and a modified exon 14 in which a C to G transversion results in the amino acid substitution of arginine for serine at position 163 (S163R). An FRT-flanked neo cassette with a 3' loxP site was inserted downstream of the modified exon 14. This mutation is found in Late-Onset Retinal Macular Degeneration (L-ORMD) patients. Flp-mediated recombination removed the neo cassette. (J:180961)

Generation of the C1qtnf5^tm1.1Geno allele

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: 14 strains or lines available

References

• Original: J:180961 Shu X, et al., Characterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degeneration. PLoS One. 2011;6(11):e27433
• All: 1 reference(s)