Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Tumor data | Find Mice (IMSR) | References

Symbol: Cptm1Hrs Name: ceruloplasmin; targeted mutation 1, Z Leah Harris MGI ID: MGI:1857981 Synonyms: Cp-, CpKO Gene: Cp  Location: Chr3:20011218-20063309 bp, + strand  Genetic Position: Chr3, 6.1 cM, cytoband D Alliance: Cptm1Hrs page

Increase in storage iron content in Cptm1Hrs/Cptm1Hrs liver and spleen Show the 4 phenotype image(s) involving this allele.

Germline Transmission:	Earliest citation of germline transmission: J:57730
Parent Cell Line:	RW-4 (ES Cell)
Strain of Origin:	129X1/SvJ

Allele Type:    Targeted (Null/knockout) 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

2 anatomical structure(s)

List all tumor models in MMHCdb carrying Cptm1Hrs

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Cp Mutation:	76 strains or lines available

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:	30 reference(s)