|
|
| Nomenclature |
|
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
|
|
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 (knock-in) |
|
Mutations: | |
Insertion, Single point mutation |
| |
|
Mutation details: Exon 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)
|
|
Phenotypes
|
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 |
|
| 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)
|
|
Analysis Tools
