|
|
| Nomenclature |
|
Symbol:
|
Cptm1Hrs
|
|
Name:
|
ceruloplasmin;
targeted mutation 1, Z Leah Harris
|
|
MGI ID: |
MGI:1857981 |
|
Synonyms: |
Cp-, CpKO |
|
Gene:
|
Cp
Location:
Chr3:19957054-20009145 bp, + strand
Genetic Position: Chr3,
6.1 cM, cytoband D
|
|
Liver histology of 1 year old wild-type and Cptm1Hrs/Cptm1Hrs mice.
Show the 4 image(s) involving this allele.
|
 |
|
Mutation origin |
|
Germline Transmission:
|
Earliest citation of germline transmission:
J:57730
|
|
Parent Cell Line:
| RW-4 (ES Cell) |
|
Strain of Origin:
|
129X1/SvJ
|
|
Mutation description |
|
Allele
Type: | |
Targeted (knock-out) |
|
Mutations: | |
Insertion, Intragenic deletion |
| |
|
Mutation details: A neomycin resistance cassette replaced a genomic fragment containing part of exon 17, intron 17 and part of exon 18, which include sequences encoding the residues essential for the formation of the trinuclear copper cluster of the encoded protein. Western blot analysis on serum derived from homozygous mice demonstrated that no detectable encoded protein was present, and activity assays on serum of homozygous mice confirmed that no functional protein is made from this allele. (J:57730)
|
|
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)
|
| References |
|
Original: |
J:57730
Harris ZL et al.,
"Targeted gene disruption reveals an essential role for ceruloplasmin in cellular iron efflux."
Proc Natl Acad Sci U S A 1999 Sep 14;96(19):10812-7
|
|
All: |
14 reference(s)
|
|