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Targeted Allele Detail
Symbol: C1qtnf5tm1.1Geno
Name: C1q and tumor necrosis factor related protein 5; targeted mutation 1.1, Genoway
MGI ID: MGI:5309003
Synonyms: C1qtnf5Ser163Arg
Gene: C1qtnf5  Location: Chr9:44107245-44109187 bp, + strand  Genetic Position: Chr9, 24.62 cM
Germline Transmission:  Earliest citation of germline transmission: J:180961
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129
Allele Type:    Targeted
Mutations:    Insertion, Single point mutation
Mutation detailsExon 14 was replaced with a loxP site and a modified exon 14 in which a G to C 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 C1qtnf5tm1.1Geno allele
View phenotypes 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:  7 strains or lines available
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)

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 6.03
The Jackson Laboratory